Prior Research

Bibliographies of 22q

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Last updated fall 2015

Bassett, A.S., McDonald-McGinn, D.M., Devriendt, K., Digilio, M.C., Goldenberg, P., Habel, A., Marino, B., Oskarsdottir, S., Philip, N., Sullivan, K., Swillen, A., Vorstman, J., and The International 22q11.2 Deletion Syndrome Consortium. (2011). Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome. J Peds, 159(2), 332-339.

Alikaşifoğlu, M., Malkoç, N., Ceviz, N., Ozme, S., Uludoğan, S., & Tunçbilek, E. (2000). Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations. Turk J Pediatrics, 42(3), 215-8.

Awasthy, N., & Khatri, S. (2013). Treatable Cause of Ventricular Dysfunction in DiGeorge Syndrome. Indian Pediatr, 50, 855.

Bawle, E.V., Conard, J., Van Dyke, D.L., Czarnecki, P., & Driscoll, D.A. (1998). Seven New cases of Cayler Cardiofacial Syndrome with Chromosome 22q11.2 Deletion, Including a Familial Case. Am J Med Genetics, 79(5), 406-410.

Borgmann, S., Luhmer, I., Arslan-Kirchner, M., Kallfelz, H.C., & Schmidtke, J. (1999). A Search for Chromosome 22q11.2 Deletions in a Series of 176 Consecutively Catheterized Patients with Congenital Heart Disease: No Evidence for Deletions in Non-syndromic Patients. Eur J Ped., 158(12), 958-963.

Boudjemline, Y., Fermont, L., Le Bidois, J., Lyonnet, S., Sidi, D., & Bonnet, D. (2001). Prevalence of the 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study. Journal of Pediatrics, 138(4), 520-4.


Choudhry, P., & Trede, N. S. (2013). DiGeorge Syndrome Gene tbx1 Functions through wnt11r to Regulate Heart Looping and Differentiation. PloS one, 8(3), e58145.

Digilio, M. C., Luca, A. D., Lepri, F., Guida, V., Ferese, R., Dentici, M. L., … & Dallapiccola, B. (2013). JAG1 Mutation in a patient with deletion 22q11. 2 syndrome and tetralogy of Fallot. American Journal of Medical Genetics Part A, 161(12), 3133-3136.

Duke C. & Chan K.C. (2001). Isolated Innominate Artery in 22q11 Microdeletion. Pediatr Cardiology, 22(1), 80-82.

Fokstuen, S., Arbenz, U., Artan, S., Dutly, F., Bauersfeld, U., Brecevic, L.,Schinzel, A. (1998). 22q11.2 Deletions in a Series of Patients with Non-Selective Congenital Heart Defects: Incidence, Type of Defects andParental Origin. Clin Genet, 53(1), 63-69.

Forrester, S., Kovach, M.J., Smith, R.E., Rimer, L., Wesson, M., & Kimonis, V.E. (2002). Kousseff Syndrome Caused by Deletion of Chromosome 22q11-13. Am J Med Genetics, 112(4), 338-342.

Ganji, H., Salehi, M., Sedghi, M., Abdali, H., Nouri, N., Sadri, L., … & Lotfi, M. (2013). Investigation of TBX1 gene deletion in Iranian children with 22q11. 2 deletion syndrome: correlation with conotruncal heart defects. Heart Asia, 5(1), 200-202.

Giray, O., Ulgenalp, A., Bora, E., Saylam, G. S., Unal, N., Mese T.,…Ercal, D. (2003). Congenital cardiac defects with 22q11 deletion. Turkish Journal of Pediatrics, 45(3), 217-220.

Goldmuntz, E., Driscoll, D. A., Emanuel, B. S., McDonald-McGinn, D., Mei, M., Zackai, E., & Mitchell, L.E. (2009) Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol, 85(2), 125-9.

Hofbeck, M., Leipold, G., Rauch, A., Buheitel, G., & Singer, H. (1999). Clinical Relevance of Monosomy 22q11.2 in Children with Pulmonary Atresia and Ventricular Septal Defect. Eur J Pediatrics, 158(4), 302-307.

Jacobson, Z., Glickstein, J., Hensle, T. & Marion, R. W. (1998). Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature. Am J Med Genet, 78(3), 294-9.

John, A. S., McDonald-McGinn, D. M., Zackai, E. H., & Goldmuntz, E. (2009) Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet, 149A(5), 939-42.

Johnson, M., Gentry, L., Rice, G., & Mount, D. (2009). A Case of Congenitally Absent Left Internal Carotid Artery: Vascular Malformations in 22q11.2 Deletion Syndrome. Cleft Palate Craniofacial Journal, [Epub ahead of print].

Johnson, M.C., Strauss, A.W., Dowton, S.B., Spray, T.L., Huddleston, C.B., Wood, M.K.,…Watson MS. (1995). Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiology, 76(1), 66-9.

Kessler-Icekson, G., Birk, E., Weintraub, A.Y., Barhum, Y., Kotlyar, V., Schlesinger, H.,…Frisch, A. (2002). Association of Tetralogy of Fallot with a distinct region of del22q11.2. Am J Med Genet, 107(4), 294-8.

Lascone, M, R. (2001). Complex conotruncal heart defect, severe bleeding disorder and 22q11 deletion: a new case of Bernard-Soulier syndrome and of 22q11 deletion syndrome? Ital Heart Journal, 2(6), 475-7.

Lindsay, E.A., Rizzu, P., Antonacci, R., Jurecic, V., Delmas-Mata, J., Lee, C.C., Baldini, A. (1996). A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. Genomics, 32(1), 104-12.

Maeda, J., Yamagishi, H., Matsuoka, R., Ishihara, J., Tokumura, M., Fukushima, H., Kojima, Y. (2000). Frequent association of 22q11.2 deletion with tetralogy of fallot. Am J Med Genet, 92(4), 269-72.

Marble, M., Morava, E., Lopez, R., Pierce, M., & Pierce, R. (1998). Report of a New Patient with Transposition of the Great Arteries With Deletion of 22q11.2. American Journal of Medical Genetics, 78(4), 317-318.

Marino, B., Digilio, M.C., Novelli, G., Giannotti, A., & Dallapiccola, B.. (1997). Tricuspid Atresia and 22q11 Deletion. Marino B, et al. Am J Med Genet, 72(1), 40-42.

Marino, B., Digilio, M.C., Toscano, A., & Dallapiccola, B. (2000). Deficiency of the infundibular septum in patients with interrupted aortic arch and del 22q11. Cardiol Young, 10(4), 428-9.

Marino, B., Digilio, M.C., Persiani, M., Di Donato, R., Toscano, A., Giannotti, A., Dallapiccola, B. (1999). Deletion 22q11 in Patients with Interrupted Aortic Arch. Am J Cardiology, 84(3), 360-361.

Matsuoka, R., Takao, A., Kimura, M., Imamura, S., Kondo, C., Joh-o, K.,…Momma, K. (1994). Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. American Journal of Medical Genetics, 53(3), 285-9.

McDonald, R., Dodgen, A., Goyal, S., Gossett, J. M., Shinkawa, T., Uppu, S. C., … & Gupta, P. (2013). Impact of 22q11. 2 Deletion on the Postoperative Course of Children After Cardiac Surgery. Pediatric cardiology, 1-7.

McElhinney, D. B., Clark, B. J., Weinberg, P. M., Kenton, M. L., McDonald-McGinn, D., Driscoll, D. A.,….Goldmuntz, E. (2001). Association of Chromosome 22q11 Deletion with Isolated Anomalies of Aortic Arch Laterality and Branching. Pediatric Cardiology, 37(8), 2114-9.

McElhinney, D. B., et al. (2001). Association of Chromosome 22q11 Deletion With Isolated Anomalies of Aortic Arch Laterily and Branching. Journal of the American College of Cardiology, 37(8), 2114-2119.

McElhinney, D.B., McDonald-McGinn, D., Zackai, E.H., Goldmuntz, E. (2001). Cardiovascular Anomalies in Patients Diagnosed with a Chromosome 22q11 Deletion Beyond 6 Months of Age. Pediatrics, 108(6), E104.

Momma, K., Matsuoka, R., & Takao A,. (1999). Aortic Arch Anomalies Associated with Chromosome 22q11 Deletion (CATCH 22). Pediatr Cardiology, 20(2), 97-102.

Nakagawa, M., Okamoto, N., Fujino, H., Watanabe, N., Okuno, M. (2000). Tetracuspid aortic valve in a patient with 22q11.2 microdeletion. Am J Med Genetics, 93(1), 74-5.

Oh, D.C., Min, J.Y., Lee, M.H., Kim, Y.M., Park, S.Y., Won, H.S.,…Ryu, H.M. (2002). Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion. J Korean Med Science, 17(1), 125-8.

Peyvandi, S., Lupo, P. J., Garbarini, J., Woyciechowski, S., Edman, S., Emanuel, B. S., … & Goldmuntz, E. (2013). 22q11. 2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases. Pediatric cardiology,1-8.

Puder, K.S., Humes, R.A., Gold, R.L., Bawle, E.V., & Goyert, G.L. (1995). The genetic implication for preceding generations of the prenataldiagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly. Am J Obstet Gynecology, 173(1), 239-41.

Rai, B., Mallick, D., Thapa, R., & Biswas, B. (2014). Cayler cardiofacial syndrome with situs inversus totalis. European journal of pediatrics, 1-4.

Rauch, A., Hofbeck, M., Bähring, S., Leipold, G., Trautmann, U., Singer, H., & Pfeiffer, R.A. (1998). Monozygotic Twins Concordant for Cayler Syndrome. Am J Med Genetics, 75(1),113-117.

Rauch, A., Hofbeck, M., Leipold, G., Klinge, J., Trautmann, U., Kirsch, M., Singer, H., & Pfeiffer, R.A. (1998). Incidence and Significance of 22q11.2 Hemizygosity in Patients with Interrupted Aortic Arch. Am J Med Genetics, 78(4), 322-331.

Raymond, F.L., Simpson, J.M., Mackie, M., & Sharland, G.K. (1997). Prenatal Diagnosis of 22q11 deletions: a Series of Five Cases with Congenital Heart Defects. J Med Genetics, 34(8), 679-682.

Saliba Z, Le Bidois J, Sidi D., Kachaner J, and Bonnet D. (1999). Prenatal Detection of a Tetralogy of Fallot with origin of the Left Pulmonary Artery from the Ascending Aorta in a Familial 22q11 Microdeletion. Prenatal Diagnosis, 19(3), 260-262.

Seaver, L.H., Pierpont, J.W., Erickson, R.P., Donnerstein, R.L., & Cassidy, S.B. (1994). Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome. Journal of Medical Genetics, 31(11), 830-4.

Shashi, V., Berry, M.N., & Hines, M.H. (2003). Vasomotor Instability in Neonates with Chromosome 22q11 Deletion Syndrome. Am J Med Genetics, 121A(3), 231-234.

Velagaleti, G.V., Kumar, A., Lockhart, L.H., & Matalon, R. (2000). Patent ductus arteriosis and microdeletion 22q11 in a patient with Klinefelter Syndrome. Ann Genetics, 43(2),105-107.

Volpe, P., Marasini, M., Caruso, G., & Gentile, M. (2002). Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11. Ultrasound Obstet Gynecology, 20(4), 327-331.

Worthington, S., Bower, C., Harrop, K., Loh, J., & Walpole, I. (1998). 22q11deletions in patients with conotruncal heart defects..J. Paediatr. Child Health, 34(5), 438-443.

Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T., & Srivastava, D. (1999). A Molecular Pathway Revealing a Genetic Basis for Human Cardiac and Craniofacial Defects. Science, 283(5405), 1158-61.

Yamanaka, S., Tanaka, Y., Kawataki, M., Ijiri, R., Imaizumi, K., & Kurahashi, H. (2000). Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant. Arch Pathol Lab Med.,124(6), 880-2.

Yi, J. J., Tang, S. X., McDonald‐McGinn, D. M., Calkins, M. E., Whinna, D. A., Souders, M. C., … & Gur, R. E. (2013). Contribution of congenital heart disease to neuropsychiatric outcome in school‐age children with 22q11. 2 deletion syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

Yong, D.E., Booth, P., Baruni, J., Massie, D., Stephen, G., Couzin, D., & Dean, J.C. (1999). Chromosome 22q11 Microdeletion and Congenital Heart Disease – a Survey in a Pediatric Population. Eur J Ped., 158(7), 566-570.


Salehzadeh, F., Jahangiri, S., Bagheri, A., & Habibzadeh, S. (2013).
Digeorge Syndrome and Juvenile Idiopathic Arthritis Association; Case Report and Brief Etiologic Discussion. Iranian Journal of Pediatrics.

Kulan, P., Pekiner, F. N., & Akyüz, S. (2013).
Oral Manifestation and Dental Management of CATCH 22 Syndrome. Marmara Dental Journal,
1(1), 46-48.

Cordovez, J. A., Capasso, J., Lingao, M. D., Sadagopan, K. A., Spaeth, G. L., Wasserman, B. N., & Levin, A. V. (2014).
Ocular Manifestations of 22q11. 2 Microduplication. Ophthalmology,
121(1), 392-398.

De Niro, J. E., Randhawa, S., & McDonald, H. R. (2013).
Retinal Vascular Tortuosity in Digeorge Syndrome Complicated By Solar Retinopathy. Retinal Cases and Brief Reports.

Reis, L. M., Tyler, R. C., Zori, R., Burgess, J., Mueller, J., & Semina, E. V. (2013).
A Case of 22q11. 2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1. Ophthalmic genetics,
(0), 1-3.

Tarlan, B., Kiratli, H., Kiliç, E., Utine, E., & Boduroglu, K. (2013).
A case of 22q11. 2 deletion syndrome with right microphthalmia and left corneal staphyloma. Ophthalmic genetics,
(0), 1-4.

Fuchs, J. C., Zinnamon, F. A., Taylor, R. R., Ivins, S., Scambler, P. J., Forge, A., … & Linden, J. F. (2013).
Hearing Loss in a Mouse Model of 22q11. 2 Deletion Syndrome.
PloS one, 8(11), e80104.

Karpinski, B. A., Maynard, T. M., Fralish, M. S., Nuwayhid, S., Zohn, I., Moody, S. A., & LaMantia, A. S. (2013).
Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge/22q11 Deletion
Syndrome. Disease models & mechanisms, dmm-012484.

Karpinski, B. A., Maynard, T. M., Fralish, M. S., Nuwayhid, S., Zohn, I., Moody, S. A., & LaMantia, A. S. (2013).
Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge/22q11 Deletion Syndrome. Disease models & mechanisms, dmm-012484.

Meechan, D. W., Rutz, H. L. H., Fralish, M. S., Maynard, T. M., Rothblat, L. A., & LaMantia, A. S. (2013).Cognitive Ability is Associated with Altered Medial Frontal Cortical Circuits in the LgDel Mouse Model of 22q11. 2DS.Cerebral Cortex, bht308.

Spruijt, N. E., Rana, M. S., Christoffels, V. M., & Mink van der Molen, A. B. (2013).
Exploring a neurogenic basis of velopharyngeal dysfunction in< i> Tbx 1 mutant mice: No difference in volumes of the nucleus ambiguus.International journal of pediatric otorhinolaryngology.

Toritsuka, M., Kimoto, S., Muraki, K., Landek-Salgado, M. A., Yoshida, A., Yamamoto, N., … & Tanigaki, K. (2013).
Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model. Proceedings of the National Academy of Sciences, 110(43), 17552-17557.


Giardino, G., Cirillo, E., Maio, F., Gallo, V., Esposito, T., Naddei, R., … & Pignata, C. (2013).
Gastrointestinal involvement in patients affected with 22q11. 2 deletion syndrome. Scandinavian journal of gastroenterology, (0), 1-6.

Burt, İ. A. (2013).
Craniofacial Dysmorphology and Hypodontia in 22q11. 2 Deletion Syndrome.

Filip, C., Matzen, M., Aukner, R., Moe, M., Høgevold, H. E., Åbyholm, F., … & Tønseth, K. (2013).
Superiorly Based Pharyngeal Flap for Treatment of Velopharyngeal Insufficiency in Patients With 22q11. 2 Deletion Syndrome.Journal of Craniofacial Surgery, 24(2), 501-504.

Pasick, C., McDonald-McGinn, D. M., Simbolon, C., Low, D., Zackai, E., & Jackson, O. (2013).
Asymmetric Crying Facies in the 22q11. 2 Deletion Syndrome Implications for Future Screening. Clinical pediatrics, 52(12), 1144-1148.

Rojnueangnit, K., & Robin, N. H. (2013).
Craniosynostosis and radial ray defect: A rare presentation of 22q11. 2 deletion syndrome. American Journal of Medical Genetics Part A, 161(8), 2024-2026.

Sainsbury, D. C., Filson, S., Butterworth, S., Tahir, A., & Hodgkinson, P. D. (2013).
Velopharyngoplasty in patients with 22q11. 2 microdeletion syndrome: outcomes following the Newcastle protocol. European Journal of Plastic Surgery, 1-12.


Aurias, A. (1996).[Neurocristopathies and chromosome 22 deletions]. C R Seances Soc Biol Fil., 190(5-6), 569-75.

Binenbaum, G., McDonald-McGinn, D. M., Zackai, E. H., Walker, B. M., Coleman, K., Mach, A. M.,…Forbes, B.J. (2008) Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genetics, 146(7), 904-9.

Briegel, W., Schneider, M., & Schwab, K. O. (2009). 22q11.2 deletion: Handicap-related problems and coping strategies of primary caregivers. Z Kinder Jugendpsychiatr Psychother, 37(6), 535-540.

Bristow, J.D., & Bernstein H.S. (1998).Counseling Families with Chromosome 22q11 Deletions: The catch in CATCH -22. J Am Coll Cardiology, 32(2), 499-501.

Burn, J. (1999). Closing Time for Catch 22. J Med Genetics, 36(10), 737-738.

Cardona, L., & Grigorenko, E. L. (2013).Velocardiofacial Syndrome. InEncyclopedia of Autism Spectrum Disorders (pp. 3214-3219). Springer New York.

Chen, C. P., Huang, J. P., Chen, Y. Y., Chern, S. R., Wu, P. S., Su, J. W., … & Wang, W. (2013).Chromosome 22q11. 2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review. Gene.

Cirillo, E., Giardino, G., Gallo, V., Puliafito, P., Azzari, C., Bacchetta, R., … & Pignata, C. (2014). Intergenerational and intrafamilial phenotypic variability in 22q11. 2 Deletion syndrome subjects. BMC medical genetics, 15(1), 1.

Corsten-Janssen, N., Saitta, S. C., Hoefsloot, L. H., McDonald-McGinn, D. M., Driscoll, D. A., Derks, R., … & van Ravenswaaij-Arts, C. M. A. (2013). More Clinical Overlap between 22q11. 2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. Molecular Syndromology.

Dalben, G., Richieri-Costa, A., & Taveira, L. A. (2009). Craniofacial Morphology in Patients with Velocardiofacial Syndrome. Cleft Palate Craniofac Journal, 19(1).

D’Antonio, L.L., Scherer, N.J., Miller, L.L., Kalbfleisch, J.H., & Bartley, J.A. (2001). Analysis of Speech Characteristics in Children with Velocardiofacial Syndrome (VCFS) and Children with PhenotypicOverlap without VCFS. Cleft Palate-Craniofacial Journal, 39(5), 455-467.

Delio, M., Guo, T., McDonald-McGinn, D. M., Zackai, E., Herman, S., Kaminetzky, M., … & Vicari, S. (2013). Enhanced Maternal Origin of the 22q11. 2 Deletion in Velocardiofacial and DiGeorge Syndromes. The American Journal of Human Genetics. Psychiatry / Psychology / Development

Demczuk, S., & Aurias, A. (1995). DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. Ann Genetics, 38(2), 59-76.

Demczuk, S., Levy, A., Aubry, M., Croquette, M.F., Philip, N., Prieur, M.,…Thomas, G. (1995). Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review ofthe literature. Hum Genetics, 96(1), 9-13.

Devriendt, K., Fryns, J.P., Mortier, G., van Thienen, M.N., & Keymolen, K. (1998). The Annual Incidence of DiGeorge/velocardiofacial syndrome. J Med Genetics, 35(9), 789-790.

Digilio, M.C., Giannotti, A., Marino, B., Guadagni, A.M., Orzalesi, M., & Dallapiccola, B. (1997). Radial Aplasia and chromosome 22q11 deletion. J Med Genetics, 34(11), 942-944.

Digilio, M. C., McDonald-McGinn, D. M., Heike, C., Catania, C., Dallapiccola, B., Marino, B., & Zackai, E.H. (2009). Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet A, 149A(12), 2860-4.

Enns, G.M., Cox, V.A., Golabi, M., Immken, L., Fisher, J., & Curry, C. (1999). Gastrointestinal Tract Anomalies in Velocardiofacial Syndrome. Am J Med Genetics, 84(4), 382-383.

Fernhoff, P.M. (2000). The 22q11.2 deletion syndrome: More answers but more questions. J Pediatr., 137(2),145-147.

Fryburg, J.S., Lin, K.Y., & Golden, W.L. (1996). Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am J Med Genetics, 62(3), 274-5.

Fukai, R., Ochi, N., Murakami, A., Nakashima, M., Tsurusaki, Y., Saitsu, H., … & Miyake, N. (2013). Co‐occurrence of 22q11 deletion syndrome and hdr syndrome. American Journal of Medical Genetics Part A, 161(10), 2576-2581.

Goodship, J., Cross, I., LiLing, J. & Wren, C. (1998). A Population Study of Chromosome 22q11 Deletions in Infancy. Arch Dis Children, 79(4), 348-51.

Gregson, R. A. (2013). Decision Making with Complex Nonlinear Systems: Inference and Identification in the Context of DS22q11. 2. Nonlinear dynamics, psychology, and life sciences, 17(2), 173-181.

Habel, A., Herriot, R., Kumararatne, D., Allgrove, J., Baker, K., Baxendale, H., … & Tsai-Goodman, B. (2014). Towards a safety net for management of 22q11. 2 deletion syndrome: guidelines for our times. European journal of pediatrics, 1-9.

Hopkin, R.J., Schorry, E.K., Bofinger, M., & Saal, H.M. (2000). Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome. J Pediatr., 137(2), 247-249.

Iselius, L., Lindsten, J., Aurias, A., Fraccaro, M., Bastard, C., Bottelli, A.M.,…Delendi, N. (1983). The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Human Genetics, 64(4), 343-355.

Klingberg, G., Oskarsdóttir, S., Johannesson, E.L., & Norén, J.G. (2002). Oral Manifestations in 22q11 deletion syndrome. International Journal of Pediatric Dentistry, 12(1), 14-23.

Kurahashi, H., Tsuda, E., Kohama, R., Nakayama, T., Masuno, M., Imaizumi, K.,…Nishisho, I. (1997). Another Critical Region for Deletion of 22q11: A Study of 100 Patients. Am J Med Genetics, 72(2), 180-185.

Lawrence, S., McDonald-McGinn, D. M.,Zackai, E. H., & Sullivan, K. E. (2003). Thrombocytopenia in patients with Chromosome 22q11.2 Deletion syndrome. The Journal of Pediatrics, 143(2), 277-8.

Leana-Cox, J., Pangkanon, S., Eanet, K.R., Curtin, M.S., & Wulfsberg, E.A. (1996). Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genetics, 65(4), 309-16.

Lee, S. K., Lee, M. J., Lee, H. J., Kim, B. K., Sohn, Y. B., & Chung, Y. S. (2013). A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman. Journal of Bone Metabolism, 20(1), 57-60.

Levy, A., Zucman, J., Delattre, O., Mattei, M.G., Rio, M.C., & Basset, P. (1992). Assignment of the human stromelysin 3 (STMY3) gene to the q11.2 region of chromosome 22. Genomics, 13(3), 881-3.

Lewandowicz-Uszynska, A., Zwonarz, K., & Chmielarska, J. (2013). The 22q11 microdeletion syndrome in children. Central European Journal of Immunology,38(2), 271-275.

Liling, J., Cross, I., & Burn, J.(1999). Frequency and predictive value of 22q11 deletion. J Med Genetics, 36(10), 794-795.

Lindsay, E.A., Goldberg, R., Jurecic, V., Morrow, B., Carlson, C., Kucherlapati, R.S.,… Baldini A. (1995). Velo-cardio-facialsyndrome: frequency and extent of 22q11 deletions. Am J Med Genetics, 57(3), 514-22.

Maggadottir, S. M., & Sullivan, K. E. (2013). The Diverse Clinical Features of Chromosome 22q11. 2 Deletion Syndrome (DiGeorge Syndrome). The Journal of Allergy and Clinical Immunology: In Practice, 1(6), 589-594.

Ming, J.E., McDonald-McGinn, D.M., Megerian, T.E., Driscoll, D.A., Elias, E.R., Russell, B.M.,…Zackai, E.H. (1997). Skeletal anomalies and Deformities in Patients with Deletions of 22q11. Am J Med Genetics, 72(2), 210-215.

Molck, M. C., Vieira, T. P., Sgardioli, I. C., Simioni, M., dos Santos, A. P., Souza, J., … & Gil-da-Silva-Lopes, V. L. (2013). Atypical copy number abnormalities in 22q11. 2 region: Report of three cases. European journal of medical genetics, 56(9), 515-520.

Monteiro, F. P., Vieira, T. P., Sgardioli, I. C., Molck, M. C., Damiano, A. P., Souza, J., … & Gil-da-Silva-Lopes, V. L. (2013). Defining new guidelines for screening the 22q11. 2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. European journal of pediatrics, 1-19.

Pierpont, J.W., Erickson, R.P., Thompson, F.H., & Yang, J.M. (1996). Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome. Clin Genetics, 50(6), 545-7.

Prasad, C., Quackenbush, E.J., Whiteman, D., & Korf, B. (1997). Limb Anomalies in DiGeorge and CHARGE Syndromes. Am J Med Genetics, 68(2),179-181.

Ricchetti, E., States, L., Hosalkar, H., Tamai, J., Maisenbacher, M., McDonald-McGinn, D.,…Drummond, D.S. (2004). Radiographic Study of the Upper Cervical Spine in the 22q11.2 Deletion Syndrome. The Journal of Bone and Joint Surgery, 86-A(8), 1751-60.

Scambler, P.J. (2000). The 22q11 deletion syndromes. Human Molecular Genetics, 9(16), 2421-2426.

Schulze, B. R., et al. (2001). Misclassification risk of patients with bilateral cleft lip and palate and manifestations of medial facial dysplasia: A new variant of del(22q11.2) syndrome? Am J Med Genet, 99(4), 280-5.

Smith, A., & Robson, L. (1999). Low Frequency of Inherited Deletions of 22q11. Am J Med Genet, 85(5), 513-514.

Tan, G. M., Arnone, D., McIntosh, A. M., & Ebmeier, K. P. (2009). Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome). Schizophr Res, 115(2-3), 173-181.

Tellier, A.L., Cormier-Daire, V., Abadie, V., Amiel, J., Sigaudy, S., Bonnet, D., Lyonnet, S. (1998). CHARGE Syndrome: Report of 47 Cases and Review. Am J Med Genet, 76(5), 402-409.

Thompson, P.W., & Davies, S.J. (1998). Frequency of Inherited deletions of 22q11. J Med Genet, 35(9), 789.

Verloes, A., Curry, C., Jamar, M., Herens, C., O’Lague, P., Marks, J., Sarda, P., & Blanchet, P. (1998). Juvenile Rheumatoid Arthritis and del(22q11) Syndrome: A Non-random Association. J Med Genet, 35(11), 943-947.

Vieira, T. P., Sgardioli, I. C., & Gil-da-Silva-Lopes, V. L. (2013). Genetics and public health: the experience of a reference center for diagnosis of 22q11. 2 deletion in Brazil and suggestions for implementing genetic testing. Journal of community genetics, 4(1), 99-106.

Wang, K., Yang, Y., Shen, F., Tao, J., Xu, H., Portnof, J., Salyer, K.E. (2009). Utilization of Three-Dimensional Computed Tomography for Craniofacial Phenotypic Analysis in Children With Velocardiofacial Syndrome. J Craniofac Surg, 20(6), 2013-9.

Worthington S, Colley A, Fagan K.Dai K, Lipson AH. (1997). Anal Anomalies: An Uncommon feature of velocardiofacial (Shprintzen) Syndrome? J Med Genet, 34(1), 79-82.


Allen, T. M., Hersh, J., Schoch, K., Curtiss, K., Hooper, S. R., & Shashi, V. (2013). Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11. 2 deletion syndrome. Journal of Intellectual Disability Research.

Angkustsiri, K., Goodlin-Jones, B., Deprey, L., Brahmbhatt, K., Harris, S., & Simon, T. J. (2013). Social Impairments in Chromosome 22q11. 2 Deletion Syndrome (22q11. 2DS): Autism Spectrum Disorder or a Different Endophenotype?. Journal of autism and developmental disorders, 1-8.

Armando, M., Pontillo, M., De Crescenzo, F., Correale, C., De Simoni, E., Papaleo, F., … & Vicari, S. (2013). AN OVERVIEW OF CORRELATIONS BETWEEN SCHIZOPHRENIA AND 22Q11. 2 DELETION SYNDROME.

Arnold, P.D., Siegel-Bartelt, J., Cytrynbaum, C., Teshima, I., & Schachar, R. ( 2001). Velo-cardio-Facial Syndrome: Implications of Microdeletion 22q11 for Schizophrenia and Mood Disorders. Am J Med Genetics, 105(4), 354-362.

Bassett, A. S., & Chow, E. W. (1999). 22q11 deletion Syndrome: A genetic substype of schizophrenia. Biol. Psychiatry, 46(7), 882-891.

Bassett, A., Hodgkinson, K., Chow., E., Correia, S., Scutt, L., & Weksberg, R. (1998). 22q11 Deletion Syndrome in Adults with Schizophrenia. Am J Med Genetics, 81(4), 328-337.

Bearden, C., Jawad, A., Lynch, D., Sokol, S., Kanes, S., McDonald-McGinn, D.,…Simon, T.J. (2004).Effects of a Functional COMT Polymorphism on Prefrontal Cognitive Function in Patients with 22q11.2 Deletion Syndrome. Am J Psychiatry, 161(9), 1700-2.

Chow, E.W., Zipursky, R.B., Mikulis, D.J., & Bassett, A.S. (2002). Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Biol Psychiatry, 51(3), 208-15.

Chow, L.Y., Garce-Barcelo, M., Wing, Y. K., & Waye, M. Y. (1999). Schizophrenia and hypocalcaemia: variable phenotype of deletion at chromosome 22q11. Australian and New Zealand Journal of Psychiatry, 33(5), 760-762.

Chow, L. Y., Waye, M. M. Y., Garcia-Barcelo, M., Chui, H. F. K., Fung, K. P., & Lee, C.Y. (1998). Velo-cardio-facial syndrome, schizophrenia and deletion at chromosome 22q11. Journal of Intellectual Disability Research, 42(2), 184-188.

Debbané, M., Van der Linden, M., Glaser, B., & Eliez, S. (2009). Monitoring of self-generated speech in adolescents with 22q11.2 deletion syndrome. Br J Clin Psychology. [Epub ahead of print]

Dewulf, D., Noens, I., & Swillen, A. (2013). Adaptieve vaardigheden, cognitief functioneren en gedragsproblemen bij adolescenten met het 22q11. 2-deletiesyndroom [Adaptive skills, cognitive functioning and behavioural problems in adolescents with 22q11. 2 deletion syndrome]. Tijdschrift voor Psychiatrie, 55(5), 369-74.

Eliez, S., Blasey, C.M., Schmitt, E.J., White, C.D., Hu, D., & Reiss, A.L. (2001). Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? Am J Psychiatry, 158(3), 447-53.

Eliez, S., Palacio-Espasa, F., Spira, A., Lacroix, M., Pont, C., Luthi, F.,…Cramer, B. (2000). Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes. Eur Child Adolesc Psychiatry, 9(2),109-14.

Feinstein, C. (2009). Stranded, part II: Velocardiofacial syndrome,behavioral neurogenetics, and the study of developmental psychopathology. J Am Acad Child Adolesc Psychiatry, 48(11), 1049-1050.

Fung, W. L. A., Butcher, N. J., Costain G., Andrade, D. M., Boot, E., Chow, E. W. C., Chung, B., Cytrynbaum, C., Faghfoury, H., Fishman, L., García-Miñaúr, S., George, S., Lang A. E., Repetto, G., Shugar, A., Silversides, C., Swillen, A., Amelsvoort T. V., McDonald-McGinn, D., Bassett, A. S. (2015) Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med, 17(8), 599-609.

Gerdes, M., Solot, C., Wang, P.P., Moss, E., LaRossa, D., Randall, P.,…Zackai, E.H. (1999). Cognitive and Behavior Profile of Preschool Children with Chromosome 22q11.2 Deletion. Am J Med Genetics, 85(2),127-133.

Gerdes, M., Solot, C., Wang, P.P., McDonald-McGinn, D.M., Zackai, E.H. (2001). Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion. Genetics in Medicine, 3, 40-44.

Glaser, B. (2002). Language Skills in children with velocardiofacial syndrome (deletion 22q11.2). Journal of Pediatrics, 140(6), 753-758.

Gothelf, D., Frisch, A., Munitz, H., Rockah, R., Laufer, N., Mozes, T.,…Frydman M. (1999). Clinical Characteristics of Schizophrenia Associated with Velocardiofacial Syndrome. Schizophr Res., 35(2),105-12.

Gothelf, D., Law, A. J., Frisch, A., Chen, J., Zarchi, O., Michaelovsky, E., … & Weinberger, D. R. (2013). Biological Effects of< i> COMT Haplotypes and Psychosis Risk in 22q11. 2 Deletion Syndrome. Biological psychiatry.

Gothelf, D., Presburger, G., Levy, D., Nahmani, A., Burg, M., Berant, M.,…Weizman, A. (2004). Genetic, Developmental, and Physical Factors Associated with Attention Deficit Hyperactivity Disorder in Patients with Velocardiofacial Syndrome. J Am Med Genet B Neuropsychiatr Genetics, 126B(1), 116-121.

Gothelf, D., Schneider, M., Green, T., Debbané, M., Frisch, A., Glaser, B., … & Eliez, S. (2013). Risk Factors and the Evolution of Psychosis in 22q11. 2 Deletion Syndrome: A Longitudinal 2-Site Study. Journal of the American Academy of Child & Adolescent Psychiatry, 52(11), 1192-1203.

Gothelf, D., Frisch, A., Munitz, H., Rockah, R., Aviram, A., Mozes, T.,…Frydman, M. (1997). Velocardiofacial Manifestations and Microdeletions in Schizophrenic Patients. Am J Med Genetics, 72(4), 455-461.

Green , T., Gothelf, D., Glaser, B., Debbane, M., Frisch, A., Kotler, M.,…Eliez, S. (2009). Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry, 48(11), 1060-1068.

Hamid, R. (2013). Relationship of Speech and Behavior Problems in DiGeorge Syndrome. AAP Grand Rounds, 29(5), 57-57.

Harrell, W., Eack, S., Hooper, S. R., Keshavan, M. S., Bonner, M. S., Schoch, K., & Shashi, V. (2013). Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11. 2 deletion syndrome. Research in developmental disabilities, 34(9), 2606-2613.

Henry, J.C., van Amelsvoort, T., Morris, R.G., Owen, M.J., Murphy, D.G., Murphy, K.C. (2002). An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS). Neuropsychologia, 40(5), 471-478.

Jones, R. G., Morley-Canellas J. (2001). Chromosome 22q11 deletions and severe learning disability. British Journal of Psychiatry, 179(5), 466-a

Jorgensen, T.H., Børglum, A.D., Mors, O., Wang, A.G., Pinaud, M., Flint, T.J.,…Ewald H. (2002). Search for Common Haplotypes on Chromosome 22q in Patients with Schizophrenia or Bipolar Disprder From the Faroe Islands. Am J Med Genetics, 114(2), 245-252.

Jolin, E. M., Weller, R. A., Jessani, N. R., Zachai, E. H., McDonald-McGinn, D. M., & Weller, E. B. (2009). Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 deletion syndrome. Journal of Affected Disorders, 119(1-3), 177-80.

Kelsoe, J.R., Spence, M.A., Loetscher, E., Foguet, M., Sadovnick, A.D., Remick, R.A.,…Luebbert, H. (2001). A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. Proc. Natl. Acad. Sci., 98(2), 585-590.

Klaassen, P., Duijff, S., Swanenburg de Veye, H., Vorstman, J., Beemer, F., & Sinnema, G. (2013). Behavior in preschool children with the 22q11. 2 deletion syndrome. American Journal of Medical Genetics Part A, 161(1), 94-101.

Lachman, H.M., Kelsoe, J.R., Remick, R.A., Sadovnick, A.D., Rapaport, M.H., Lin, M.,… Papolos, D.F. (1997). Linkage Studies Suggest a Possible Locus for Bipolar Disorder Near the Velo-Cardio-Facial Syndrome Regiona onChromosome 22. Am J Med Genetics, 74(2),121-128.

Lindsay, E.A., Morris, M.A., Gos, A., Nestadt, G., Wolyniec, P.S., Lasseter, V.K.,…Pulver, A.E. (1995). Schizophrenia and chromosomal deletions within 22q11.2. Am J Hum Genetics, 56(6), 1502-3.

Liu, H., Abecasis, G.R., Heath, S.C., Knowles, A., Demars, S., Chen, Y.J.,…Karayiorgou, M. (2002). Genetic variation in the 22q11 locus and susceptibility to schizophrenia. PNAS, 99(26), 16859-16864.

McCandless, S.E., Scott, J.A., & Robin, N.H. (1998). Deletion 22q11 : A Newly Recognized Cause of Behavioral and Psychiatric Disorders. Arch Pediatr Adolesc Med., 152(5), 481-4.

Morris, E., Inglis, A., Friedman, J., & Austin, J. (2013). Discussing the psychiatric manifestations of 22q11. 2 deletion syndrome: an exploration of clinical practice among medical geneticists. Genetics in Medicine.

Moss, E.M., Batshaw, M.L., Solot, C.B., Gerdes, M., McDonald-McGinn, D.M., Driscoll, D.A., Emanuel, B.S., Zackai, E.H., & Wang, P.P. (1999). Psychoeducational Profile of the 22q11.2 Microdeletion: A Complex Pattern. Journal of Pediatrics, 134(2),142-3.

Moss, E., Wang P.P, McDonald-McGinn, D.M., Gerdes, M., DaCosta, A.M., Christensen, K.M., Driscoll, D.A., Emanuel, B.S., Batshaw, M.L., Zackai, E.H. (1995). Characteristic cognitive profile in patients with a 22q11.2 deletion: verbal IQ exceeds nonverbal IQ. American Journal of Human Genetics, 57, 91.

Murphy, K. C., Jones, L.A., & Owen, M.J. (1999). High Rates of Schizophrenia in Adults with Velo-cardio-facial Syndrome. Arch Gen Psychiatry, 56(10), 940-945.

Murphy, K. C. (2002). Schizophrenia and velo-cardio-facial syndrome. Lancet, 359(9304), 426-30.

Murphy, K. C., & Owen, M. J. (1998). The Behavioural Phenotype in Velo-cardio-facial Syndrome. Schizophrenia Research, 29(1), 132-132(1).

Murphy, K. C. (2004). The behavioural phenotype in velo-cardio-facial syndrome. Journal of Intellectual Disability Research, 48(6), 524-530.

Murphy, K. C., & Owen, M. J. (2001). Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia. British Jounral of Psychiatry, 179, 397-402.

Niarchou, M., Zammit, S., van Goozen, S. H., Thapar, A., Tierling, H. M., Owen, M. J., & van den Bree, M. B. (2014). Psychopathology and cognition in children with 22q11. 2 deletion syndrome. The British Journal of Psychiatry,204(1), 46-54.

Niklasson, L., Rasmussen, P., Oskarsdóttir, S., Gillberg, C. (2002). Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neurophsychological aspects. Developmental Medicine and Child Neurology, 44(1), 44-50.

Ohi, K., Hashimoto, R., Yamamori, H., Yasuda, Y., Fujimoto, M., Nakatani, N., … & Takeda, M. (2013). How to diagnose the 22q11. 2 deletion syndrome in patients with schizophrenia: a case report. Annals of general psychiatry, 12(1), 29.

Paylor, R., McIlwain, K.L., McAninch, R., Nellis, A., Yuva-Paylor, L.A., Baldini, A., & Lindsay, E.A. (2001). Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. Hum Mol Genetics, 10(23), 2645-2650.

Perlstein, M. D., Chohan, M. R., Coman, I. L., Antshel, K. M., Fremont, W. P., Gnirke, M. H., … & Kates, W. R. (2014). White matter abnormalities in 22q11. 2 deletion syndrome: Preliminary associations with the Nogo-66 receptor gene and symptoms of psychosis. Schizophrenia research, 152(1), 117-123.

Prinzie, P., Swillen, A., Vogels, A., Kockuyt, V., Curfs, L., Haselager, G.,…Fryns, J.P. (2002). Personality Profiles of Youngsters with Velo-cardio-facial syndrome. Genetic Counseling, 13(3), 265-280.

Reilly, C., & Stedman, L. (2013). Supporting children with genetic syndromes in the classroom: the example of 22q deletion syndrome. Support for Learning,28(3), 115-121.

Ross, H., Guo, Y., Coleman, K., Ousley, O., & Miller, A. (2013). Association of IL-12p70 and IL-6: IL-10 ratio with autism-related behaviors in 22q11. 2 deletion syndrome: a preliminary report. Brain, behavior, and immunity.

Scandurra, V., Scordo, M. R., Canitano, R., & de Bruin, E. I. (2013). 22q11 Deletion Syndrome and Multiple Complex Developmental Disorder: A Case Report. Journal of clinical medicine research, 5(2), 135.

Shashi, V., Wray, E., Schoch, K., Curtiss, K., & Hooper, S. R. (2013). Discrepancies in Parent and Teacher Ratings of Social-Behavioral Functioning of Children With Chromosome 22q11. 2 Deletion Syndrome: Implications for Assessment. American journal on intellectual and developmental disabilities,118(5), 339-352.

Scherer, N.J., D’Antonio, L.L., & Kalbfleish, J.H. (1999). Early Speech and Language Development in Children with Velocardiofacial Syndrome. Am J Med Genet (Neuropsychiatric Genetics), 88(6), 714-723.

Shastry, B. S. (1999). Recent Developments in the genetics of schizophrenia. Neurogenetics, 2(3), 149-154.

Shprintzen, R. J. (2000). Velo-Cardio-Facial Syndrome: A Distinctive Behavioral Phenotype. Mental Retardation and Developmental Disabilities Research reviews, 6(2), 142-147.

Simon, T. J., Takarae, Y., Deboer, T., McDonald-McGinn, D. M., Zackai, E. H., & Ross, J. L. (2008). Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes. Neuropsychologia, 46(1), 82-94.

Simon, T. J., Bearden, C. E., Moss, E. M., McDonald-McGinn, D., Zackai, E., & Wang, P. P. (2002). Cognitive Development in VCFS. Progress in Pediatric Cardiology, 15(2), 109-117.

Solot, C.B., Knightly, C., Handler, S.D., Gerdes, M., McDonald-McGinn, D.M., Moss, E., Wang, P., Cohen, M., Randall, P., Larossa, D., & Driscoll, D.A. (2000). Communication disorders in the 22q11.2 microdeletion syndrome. J Commun Disord., 33(3), 187-203.

Solot C.B., Gerdes, M., Kirschner, R.E., McDonald-McGinn, D.M., Moss, E., Woodin, M., Aleman, D., Zackai, E.H., Wang, P.P. (2001). Communication issues in 22q11.2 deletion syndrome: Children at risk. Genetics in Medicine, 3, 67-71.

Sugama, S., Namihira, T., Matsuoka, R., Taira, N., Eto, Y., & Maekawa, K. (1999). Psychiatric Inpatients and Chromosome Deletions within 22q11.2. J Neurol Neurosurg Psychiatry, 67(6), 803-806.

Swillen, A., Devriendt, K., Ghesquière, P., & Fryns, J.P. (2001). Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behaviour during primary school age. Genet Couns., 12(4), 309-17.

Swillen, A., Vandeputte, L., Cracco, J., Maes, B., Ghesquière, P., Devriendt, K., & Fryns, J.P. (1999). Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Neuropsychol Dev Cogn Sect C Child Neuropsychology, 5(4), 230-41.

Swillen, A., Devriendt, K., Legius, E., Eyskens, B., Dumoulin, M., Gewillig, M., & Fryns, J.P. (1997). Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genetics, 34(6), 453-458.

Swillen, A., Vogels, A., Devriendt, K., & Fryns, J. P. (2000). Chromosome 22q11 Deletion Syndrome: Update and Review of the Clinical Features, Cognitive-Behavioral Spectrum,and Psychiatric Complications. Am J Med Genetics, 97(2), 128-135.

Tang, S. X., Yi, J. J., Calkins, M. E., Whinna, D. A., Kohler, C. G., Souders, M. C., … & Gur, R. E. (2013). Psychiatric disorders in 22q11. 2 deletion syndrome are prevalent but undertreated. Psychol. Med, 9, 1-11.

Tarsitano, M., Ceglia, C., Novelli, A., Capalbo, A., Lombardo, B., Pastore, L., … & Cavaliere, M. L. (2013). Microduplications in 22q11. 2 and 8q22. 1 associated with mild mental retardation and generalized overgrowth. Gene.

Van Amelsvoort, T., Henry, J., Morris, R., Owen, M., Liszen, D., Murphy, K., & Murphy, D. (2004). Cognitive deficits associated with schizophrenia in velo-cardio-facial syndrome. Schizophrenia Research, 70(2-3), 223-232.

Van Den Heuvel, E., Swillen, A., Manders, E., & Zink, I. (2013). Relationship between social behavior, cognition and communication in children with 22q11. 2 deletion syndrome. status: published.

Vataja, R., & Elomaa, E. (1998).Midline Brain Anomalies and Schizophrenia in People with CATCH 22 Syndrome. Br J Psychiatry, 172, 518-20.Vogels, A., Verhoeven, W.M., Tuinier, S., DeVriendt, K., Swillen, A., Curfs, L.M., & Frijns, J.P. (2002). The psychopathological phenotype of velo-cardio-facial-syndrome. Annales de Genetique, 45(2), 89-95.

Vogels, A., Verhoeven, W.M., Tuinier, S., DeVriendt, K., Swillen, A., Curfs, L.M., & Frijns, J.P. (2002). The psychopathological phenotype of velo-cardio-facial-syndrome. Annales de Genetique, 45(2), 89-95.

Walter, E., Mazaika, P. K., & Reiss, A. L. (2009). Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome. Neuroscience, 24(164), 257-271.

Wang, P. P. Woodin, M. F., Kreps-Falk, R., & Moss, E. M. (2000). Research on behavioral phenotypes: velocardiofacial syndrome (deletion 22q11.2). Dev Med Child Neurology, 42(6), 422-7.

Woodin, M., Wang P.P., Aleman, D., McDonald-McGinn, D., Zackai, E., Moss, E. (2001). Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genetics in Medicine, 3, 34-39.

Yuen, T., Chow, E. W., Silversides, C. K., & Bassett, A. S. (2013). Premorbid adjustment and schizophrenia in individuals with 22q11. 2 deletion syndrome.Schizophrenia research, 151(1), 221-225.

Methylphenidate Treatment for Attention-Deficit/Hyperactivity Disorder in Children and Adolescents With Velocardiofacial Syndrome: An Open-Label Study

 The Effect of Methylphenidate on Prefrontal Cognitive Functioning, Inattention, and Hyperactivity in Velocardiofacial Syndrome

 Atypical Antipsychotics and Relapsing Psychoses in 22q11.2 Deletion Syndrome: A Long-term Evaluation of 28 Patients

Boorman J.G, Varma, S., & Ogilvie, C.M. (2001). Velopharyngeal incompetence and chromosome 22q11 deletion. The Lancet,357(9258), 774.

Digilio, M.C., Marino, B., Bagolan, P., Giannotti, A., & Dallapiccola, B. (1999). Microdeletion 22q11 and Oesophageal Atresia. J Med Genetics, 36(2),137-139.

Digilio, M.C., Pacifico, C., Tieri, L., Marino, B., Giannotti, A., & Dallapiccola, B. (1999). Audiological findings in patients with microdeletion 22q11. Br J Audiol., 33(5), 329-33.

Eicher, P.S., McDonald-McGinn, D.M., Fox, C.A., Driscoll, D.A., Emanuel, B.S., & Zackai, E.H. (2000). Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow. J Pediatr., 137(2),158-164.

Fokstuen, S., Bottani, A., Medeiros, P.F., Antonarakis, S.E., Stoll, C., & Schinzel, A. (1997). Laryngeal Atresia Type III (Glottic Web) With 22q11.2 Microdeletion: Report of Three Patients. Am J Med Genetics, 70(2), 130-133.

Forbes, B. J., Binebaum G., Edmond J.C., DeLarato N., McDonald-McGinn D.M., & Zackai E.H. (2007) Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS, 11(2), 179-182.

Gripp, K.W., McDonald-McGinn, D.M., Driscoll, D., Reed, L.A., Emanuel, B.S., & Zackai, E.H. (1997). Nasal Dimple as Part of the 22q11.2 Deletion Syndrome. Am J Med Genetics, 69(3), 290-292.

Huang, R.Y., & Shapiro, N.L. (2000). Structural airway anomalies in patients with DiGeorge syndrome: a current review. Am J Otolaryngology, 21(5), 326-30.

Kirkpatrick, S.J., & Pauli, R.M. (1998). Frontonasal Malformation and Deletion of 22q11. Am J Med Genetics, 75(3), 443-444.

Marble, M., Morava, E., Tsien, F., Amedee, R., & Pierce, M. (1998). Subglottic Web in a Mother and Son with 22q11.2 Deletion. Am J Med Genetics, 75(5), 537.

Reyes, M.R.T., Leblanc, E.M., & Bassila, M.K. (1999). Hearing Loss and Otitis Media in Velo-Cardio-Facial Syndrome. International Journal of Pediatric Otorhinolaryngology, 47(3), 227-233.

Stoler, J.M., Ladoulis, M., & Holmes, L.B. (1998). Anterior Laryngeal Webs and 22q11 Deletions. American Journal of Medical Genetics, 79(2),152.

Vantrappen, G., Rommel, N., Cremers, C.W., Devriendt, K., & Frijns, J.P. (1998). The Velo-cardio-facial Syndrome; The Otohinolaryngeal Manifestations and Implications. International Journal of Pediatric Otorhinolaryngology, 45(2), 133-41.

Versteegh, F.G., von Lindern, J.S., Kemper, J., Eichhorn, E., Simonsz, H.J., & Wouters, C.H. (2000). Duane retraction syndrome, a new feature in 22q11 deletion syndrome? Clin Dysmorphology, 9(2), 135-7.

Ysunza, A., Pamplona, M.C., Ramírez, E., Canún, S., Sierra, M.C., & Silva-Rojas, A. (2003). Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome). International Journal of Pediatric Otorhinolaryngology, 67(8), 911-915.

Zori, R.T., Boyar, F.Z., Williams, W.N., Gray, B.A., Bent-Williams, A., Stalker, H.J.,… Williams, C.A. (1998). Prevalence of 22q11 region Deletions in Patients with Velopharengeal Insufficiency. Am J Med Genetics, 77(1), 8-11.

Bautista, R. E., & González, W. (2009). Seizures and EEG findings in an adult patient with DiGeorge syndrome: a case report and review of the literature. Seizure, 18(9), 10.

Bearden, C. E., van Erp, T. G., Dutton, R. A., Lee, A. D., Simon, T. J., Cannon, T. D.,…Thompson, P. M. (2009). Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cereb Cortex, 19(1), 115-26.

Bingham, P.M., Zimmerman, R.A., McDonald-McGinn, D., Driscoll, D., Emanuel, B.S., & Zackai, E. (1997). Enlarged Sylvian Fissures in Infants with Interstitial Deletion of Chromosome 22q11. Am J Med Genetics, 74(5), 538-543.

Chow, E.W., Mikulis, D.J., Zipursky,R.B., Scutt, L.E., Weksburg, R., & Bassett. A.S. (1999). Qualitative MRI Findings in Adults with 22q11 Deletion Syndrome and Schizophrenia. Biol. Psychiatry, 46(10),1436-1442.

Dean, J.C., De Silva, D.C. & Reardon, W. (1998). Craniostenosis and chromosome 22q11 deletion. J Med Genetics, 35(4), 346-247.

Forstner, A. J., Degenhardt, F., Schratt, G., & Nöthen, M. M. (2013).MicroRNAs as the cause of schizophrenia in 22q11. 2 deletion carriers, and possible implications for idiopathic disease: a mini-review. Frontiers in molecular neuroscience, 6.

Hiroi, N., Takahashi, T., Hishimoto, A., Izumi, T., Boku, S., & Hiramoto, T. (2013). Copy number variation at 22q11. 2: from rare variants to common mechanisms of developmental neuropsychiatric disorders. Molecular psychiatry.

Hulsebos, T.J., Bijlsma, E.K., Geurts van Kessel, A.H., Brakenhoff, R.H., & Westerveld, A. (1991). Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2—-q12: markers for neurofibromatosis 2. Cytogenetics and Cell Genetics, 56(3-4), 171-5.

Jhanwar, S.C., Chen, Q., Li, F.P., Brennan, M.F., & Woodruff, J.M. (1994). Cytogenetic analysis of soft tissue sarcomas. Recurrent chromosome abnormalities in malignant peripheral nerve sheath tumors (MPNST). Cancer Genet Cytogenetics, 78(2),138-44.

Jonas, R. K., Montojo, C. A., & Bearden, C. E. (2013).The 22q11. 2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan. Biological psychiatry.

Kao, A., Mariani, J., McDonald-McGinn, D. Maisenbacher, M., Brooks-Kayal, A., Zackai, E., & Lynch, D.R. (2004). Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genetics, 129A(1), 29-34.

Kawame H., Kurosawa K., Akatsuka A., Ochiai Y., & Mizuno K. (2000). Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome. Am J Med Genetics, 94(1),77-8.

Kozma, C. (1998). On Cognitive Variability in Velocardiofacial Syndrome: Profound Mental Retardation and Autism. Am J MedGenet (Neuropsychiatric Genetics), 81(3), 269-270.

Lemke, J. R., Beck-Wödl , S., Zankl, A., Riegel, M., Kramer, G., & Dorn, T. (2009). Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2))-Causal relationship or coincidence?. Seizure, 18(9), 660-663.

Lynch, D.R., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S., Driscoll, D.A., Whitaker, L.A., & Fischbeck, K.H. (1995). Cerebellar atrophyin a patient with velocardiofacial syndrome. J Med Genetics,32(7), 561-3.

Machado, A.M., Simon, T.J., Nguyen, V., McDonald-McGinn, D.M., Zackai, E.H., Gee, J.C. (2007). Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Res., 1131(1), 197-210.

McKeever, P.E., Dennis, T.R., Burgess, A.C., Meltzer, P.S., Marchuk, D.A., & Trent, J.M. (1996). Chromosome breakpoint at 17q11.2 andinsertion of DNA from three different chromosomes in a glioblastoma with exceptional glial fibrillary acidic proteinexpression. Cancer Genet Cytogenetics, 87(1), 41-7.

Meechan, D. W., Tucker, E. S., Maynard, T. M., & Lamantia, A. S. (2009). Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci., 106(38), 16434-16445.

Niklasson L, & Gillberg C. (2010). The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals. Research in Developmental Disabilities: A Multidisciplinary Journal, 31(1), 185-194.

Ogilvie, C.M., Moore, J., Daker, M., Palferman, S., Doeherty, Z., & IMGSAC. (2000). Chromosome 22q11 Deletions are Not Found in Autistic Patients Identified Using Strict Diagnostic Criteria. Am J Med Genet (Neuropsychiatric Genetics), 96(1), 15-17.

Ottet, M. C., Schaer, M., Debbané, M., Cammoun, L., Thiran, J. P., & Eliez, S. (2013). Graph theory reveals dysconnected hubs in 22q11DS and altered nodal efficiency in patients with hallucinations. Frontiers in human neuroscience, 7.

Schaer, M., Debbané, M., Bach Cuadra, M., Ottet, M.C., Glaser, B., Thiran, J.P., & Eliez, S. (2009). Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): A cross-sectional and longitudinal study. Schizophrenia Research, 115(2-3), 182-190.

Schreiner, M. J., Karlsgodt, K. H., Uddin, L. Q., Chow, C., Congdon, E., Jalbrzikowski, M., & Bearden, C. E. (2013). Default mode network connectivity and reciprocal social behavior in 22q11. 2 deletion syndrome. Social cognitive and affective neuroscience, nst114.

Sinderberry, B., Brown, S., Hammond, P., Stevens, A. F., Schall, U., Murphy, D. G., … & Campbell, L. E. (2013). Subtypes in 22q11. 2 deletion syndrome associated with behaviour and neurofacial morphology. Research in developmental disabilities, 34(1), 116-125.

Squarcione, C., Torti, M. C., Di Fabio, F., & Biondi, M. (2013). 22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis. Neuropsychiatric disease and treatment, 9, 1873.

Tahir, M. O., Kerr, M., & Jones, R. G. (2004). Two cases of generalized seizures and the Velocardiofacial syndrome – a clinically significant association? Journal of Intellectual Disability Research, 48(7), 695-8.

Thompson, P. M., & Simon, T. J. (2013). White matter microstructural abnormalities in girls with chromosome 22q11. 2 deletion syndrome, Fragile X or Turner syndrome as evidenced by diffusion tensor imaging. NeuroImage, 81, 441-454.

Van Amelsvoort, T., Daly, E., Robertson, D., Suckling, J., Ng, Virginia, Critchley, H.,…Murphy, D.G.M. (2001). Structural brain abnormalities associated with deletion at chromosome 22q11: Quantitative neuroimaging study of adults with velo-cardio-facial syndrome. British Journal of Psychiatry, 178, 412-419.

Winqvist, R., Lundstrom, K., Salminen, M., Laatikainen, M., & Ulmanen, I. (1992). The human catechol-O-methyltransferase (COMT) gene maps to band q11.2 of chromosome 22 and shows a frequent RFLP with BglI. Cytogenetics and Cell Genetics, 59(4), 253-7.

Worthington, S., Turner, A., Elber, J., & Andrews, P.I. (2000). 22q11 deletion and polymicrogyria–cause or coincidence? Clin Dysmorphology, 9(3),193-7.

Yan, W., Jacobsen, L.K., Krasnewich, D.M., Guan, X.Y., Lenane, M.C., Paul, S.P., …Rapoport, J.L. (1998). Chromosome 22q11.2 Interstitial Deletions Among Childhood-Onset Schizophrenics and “Multidimentionally Impaired”. Am J Med Genetics, 81(7), 41-43.

Bataeva, R., Bellsham‐Revell, H., Zidere, V., & Allan, L. D. (2013). Reliability of fetal thymus measurement in prediction of 22q11. 2 deletion: a retrospective study using four‐dimensional spatiotemporal image correlation volumes.Ultrasound in Obstetrics & Gynecology, 41(2), 172-176.

Bauer, S.R., Huebner, K., Budarf, M., Finan, J., Erikson, J., Emanuel, B.S.,…Melchers F. (1988). The human Vpre B gene is located on chromosome 22 near a cluster of V lambda gene segments. Immunogenetics, 28(5), 328-33.

Bauer, T.R. Jr., McDermid, H.E., Budarf, M.L., Van Keuren, M.L., & Blomberg, B.B. (1993). Physical location of the human immunoglobulin lambda-like genes, 14.1, 16.1, and 16.2. Immunogenetics, 38(6), 387-99.

Bockman, D.E. (1997). Development of the Thymus. Microscopy Research and Technique, 38(3), 209-215.

Chinn, I. K., Milner, J. D., Scheinberg, P., Douek, D. C., & Markert, M. L. (2013). Thymus transplantation restores the repertoires of forkhead box protein 3 (FoxP3)+ and FoxP3− T cells in complete DiGeorge anomaly. Clinical & Experimental Immunology, 173(1), 140-149.

Davies, E. G. (2013). Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia. Frontiers in immunology, 4.

Digilio, M.C., Giannotti, A., Castro, M., Colistro, F., Ferretti, F., Marino, B., & Dallapiccola, B. (2003). Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/Velo-cardio-facial Syndrome). Am J Med Genetics, 121A(3), 286-288.

Djulbegovic, B., Hadley, T., &Yen, F. (1991). Occurrence of high-grade T-cell lymphoma in a patient with Philadelphia chromosomenegativechronic myelogenous leukemia with breakpoint cluster region rearrangement: case report and review of the literature. American Journal of Hematology, 36(1), 63-4.

Duke, S.G., McGuirt, W.F.Jr., Jewett, T., & Fasano, M.B. (2000). Velocardiofacial syndrome: incidence of immune cytopenias. Arch Otolaryngol Head Neck Surgery, 126(9), 1141-5.

Frippiat, J.P., Williams, S.C., Tomlinson, I.M., Cook, G.P., Cherif, D., Le Paslier, D.,…Lefranc, M.P. (1995).Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2. Hum Mol Genetics, 4(6), 983-91.

Gennery, A. R. (2013). Immunological features of 22q11 deletion syndrome.Current opinion in pediatrics, 25(6), 730-735.

Hough, C.A., White, B.N., & Holden, J.J. (1995). Absence of lambda immunoglobulin sequences on the supernumerary chromosome ofthe “cat eye” syndrome. Am J Med Genetics, 58(3), 277-81.

Ip, W., Zhan, H., Gilmour, K. C., Davies, E. G., & Qasim, W. (2013). 22q11. 2 Deletion Syndrome with Life-Threatening Adenovirus Infection. The Journal of pediatrics.

James, J. M. (2013). Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome. Pediatrics, 132(Supplement 1), S50-S51.

Jawad, A.F., McDonald-Mcginn, D.M., Zackai, E., & Sullivan, K.E. (2001). Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge Syndrome/velocardiofacial syndrome). The Journal of Pediatrics, 139(5), 715-723.

Kim, H. J., Jo, H. S., Yoo, E. G., Chung, I. H., Kim, S. W., Lee, K. H., & Chang, Y. H. (2013). 22q11. 2 Microduplication with Thyroid Hemiagenesis.Hormone research in paediatrics, 79(4), 243-249.

Kim, K. Y., Hur, J., Kim, K. H., Cha, Y. J., Lee, M. J., & Kim, D. S. (2013). A case of DiGeorge syndrome who developed lymphoproliferative mediastinal mass. Korean Journal of Pediatrics.

Kornfeld, S. J., Zeffren, B., Christodoulou, C. S., Day, N. K., Cawkwell, G., & Good, R. A. (2000). DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization. J Allergy Clin Immunology, 105(5), 983-7.

Martin Mateos, M.A., Pérez Dueñas, B.P., Iriondo, M., Krauel, J., & Gean Molins, E. (2000). Clinical and immunological spectrum of partial DiGeorge syndrome. J Investig Allergol Clin Immunology, 10(6), 352-60.

Moran, T. P., & Vickery, B. P. (2013). Impaired Intrinsic Immunity to HSV-1 in Human iPSC-Derived TLR3-Deficient CNS Cells. Pediatrics, 132(Supplement 1), S51-S52.

Nakagawa, M., Sugiyama, H., Ogawa, H., Tone, S., Morishita, H. Ikeda, H.,…Kishimoto T. (1995). Intermediate lymphocytic lymphoma with both t(14;19)(q32.3;q13.1) and t(3;22)(q27;q11.2). Cancer Genet Cytogenetics, 79(1), 89-91.

Pierdominici, M., Marziali, M., Giovannetti, A., Oliva, A., Rosso, R., Marino, B., et al. (2000). T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome. Clin Exp Immunology, 121(1), 127-32.

Soldatou, A., Anastassiou, T., Vougiouka, O., Goussetis, E., & Kossiva, L. (2013). Transient Effect of Anti-CD20 Therapy in a Child With 22q11. 2 Deletion Syndrome and Severe Steroid Refractory Cytopenias: A Case Report. Journal of pediatric hematology/oncology, 35(4), 311-314.

Suniara, R.K., Jenkinson, E. J., & Owen, J.J.T. (2000). An Essential Role for Thymic Mesenchyme in Early T Cell Development. J Exp Med., 191(6),1051-1056.

Sullivan, K. E., Jawad, A. F., Randall, P., Driscoll, D. A., Emanuel, B. S., McDonald-McGinn, D. M., & Zackai, E. H. (1998). Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome). Clinical Immunology and Immunopathology, 86(2),141-146.

Tam, P. Y. I., Hanisch, B. R., Klammer, K., & DeVries, A. S. (2014). Measles Vaccine Strain From the Skin Rash of a DiGeorge Patient Receiving Tumor Necrosis Factor Inhibitor. The Pediatric infectious disease journal, 33(1), 117.

Williams, S.C., Frippiat, J.P., Tomlinson, I.M., Ignatovich, O., Lefranc, M.P., & Winter, G. (1996). Sequence and evolution of the humangermline V lambda repertoire. J Mol Biology, 264(2), 220-32.

Arico, M., Bettinelli, A., Maccario, R., Clementi, R., Bossi, G., & Danesin, C. (1999). Hemophagocytic Lymphohistiocytosis in a patient with deletion of 22q11.2. Am J Med Genetics, 87(4), 329-330.

Budarf, M.L., Konkle, B.A., Ludlow, L.B., Michaud, D., Li, M., Yamashiro, D.J.,…Driscoll, D.A. (1995). Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomalregion in 22q11.2. Hum Mol Genetics, 4(4), 763-6.

Kelly, M.D., Essex, D.W., Shapiro, S.S., Meloni, F.J., Druck, T., Huebner, K., & Konkle, B.A. (1994). Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22. Journal of Clinical Investigation, 93(6), 2417-24.

Lévy, A., Michel, G., Lemerrer, M., & Philip, N. (1997). Idiopathic Thrombocytopenic Purpura in Two Mothers of Children with DiGeorge Sequence: A New ComponentManifestation of Deletion 22q11? Am J Med Genetics, 69(4), 356-359.

Ludlow, L.B., Schick, B.P., Budarf, M.L., Driscoll, D.A., Zackai, E.H., Cohen, A., & Konkle, B.A. (1996). Identification of a mutation in a GATAbinding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. J Biol Chem., 271(36), 22076-80.

Nakagawa, M., Okuno, M., Okamoto, N., Fujino, H., & Hirofumi, K. (2001). Bernard-Soulier syndrome associated with 22q11.2 microdeletion. Am J Med Genetics, 99(4), 286-288.

Séguin, C. (2013). A Case Of Refractory Autoimmune Hemolytic Anemia In a Patient With Digeorge Syndrome Treated Successfully With Plasma Exchange.Blood, 122(21), 4829-4829.

Yagi, M., Edelhoff, S., Disteche, C.M., & Roth, G.J. (1994). Structural characterization and chromosomal location of the gene encodinghuman platelet glycoprotein Ib beta. Journal of Biological Chemistry, 269(26), 17424-7.

Devriendt, K., Van Schoubroeck, D., Eyskens, B., Vantrappen, G., Swillen, A., Gewillig, M., Dumoulin, M., Moerman, P., Vandenberghe, K., & Fryns, J.P. (1998). Polyhydramnios as a Prenatal Symptom of the DiGeorge/Velo-Cardio Facial Syndrome. Prenatal Diagnosis, 18(1), 68-72.

Goodship, J., Robson, S.C., Sturgiss, S., Cross, L.E., & Wright, C. (1997). Renal Abnormalities on Obstetric Ultrasound as a presentation of DiGeorge Syndrome. Prenatal Diagnosis, 17(9), 867-870.

Newsham, I., Daub, D., Besnard-Guerin, C., & Cavenee, W. (1994). Molecular sublocalization and characterization of the 11;22 translocation breakpoint in a malignant rhabdoid tumor. Genomics, 19(3), 433-40.

Ota, S., Crabbe, D.C., Tran, T.N., Triche, T.J., & Shimada, H. (1993). Malignant rhabdoid tumor. A study with two established cell lines. Cancer, 71(9), 2862-72.

Stewart, T. L., Irons, M. B., Cowan, J. M., Bianchi, D. W. (1999). Increased Incidence of Renal Anomalies in Patients with Chromosome 22q11 Microdeletion. Teratology, 59, 20-22.

Sundaram,U.T., McDonald-McGinn, D.M., Huff D., Emanuel, B.S., Zackai, E.H., Driscoll, D.A., Bodurtha J (2007) Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. Am J Med Genetics, 143(17), 2016-8.

Wu, H.Y., Rusnack, S.L., Bellah, R.D., Plachter, N., McDonald-McGinn, D.M., Zackai, E.H., & Canning, D.A. (2002). Genitourinary Malformations in Chromosome 22q11.2 Deletion. The Journal of Urology, 168(6), 2564-2565.

Adachi, M., Tachibana, K., Masuno, M., Makita, Y., Maesaka, H., Okada, T.,…Suwa, S. (1998). Clinical Characteristics of Children with Hypoparathyroidism due to 22q11.2 Microdeletion. Eur J Pediatrics, 157(1), 34-38.

Almeida, J. R., James, A. L., Papsin, B. C., Weksburg, R., Clark, H., & Blaser, S. . (2009). Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromes. Laryngoscope, 119(8), 1495-1500.

Barrea, C., Yoo, S.J., Chitayat, D., Valsangiacomo, E., Winsor, E., Smallhorn, J.F., & Hornberger, L.K. (2003). Assessment of the thymus at echocardiograophy in fetuses at risk for 22q11.2 deletion. Prenatal Diagnosis, 23(1), 9-15

Bish, J., Nguyen, V., Ding, L., Ferrante, S., & Simon, T. (2004). Thalamic reductions in children with chromosome 22q11.2 deletion syndrome. NeuroReport, 15(9), 1413-1415.

Craigen, W.J., Lindsay, E.A., Bricker, J.T., Hawkins, E.P., & Baldini, A. (1997). Deletion of Chromosome 22q11 and Pseudohypoparathyroidism. Am J Med Genetics, 72(1), 63-65.

Cuneo, B.F., Driscoll, D.A., Gidding, S.S., & Langman, C.B. (1997). Evolution of Latent Hypoparathyroidism in Familial 22q11 Deletion Syndrome. Am J Med Genetics, 69(1), 50-55.

Fadhil, K., Shah, M., Parker, M., & Orjioke, N. (2013). Sarcoidosis and Hypocalcemia an Unusual Combination, DiGeorge Variant In Adulthood. Chest,144(4_MeetingAbstracts), 954A.

Garcia-Garcia, E., Camacho-Alonso, J., Gomez-Rodriguez, M. J., del Castillo, E., Martinez-Aedo, & Lopez-Siguero, J.P. (2000). Transient congenital hypoparathyroidism and 22q11 deletion. J Pediatr Endocrinol Metab., 13(6), 659-61.

Havkin, N., Tatum, S. A., & Shprintzen, R. J. (2000). Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development. Int J Pediatr Otorhinolaryngology, 54(2-3),103-10.

Kapadia, C. R., Kim, Y. E., McDonald-McGinn, D. M., Zackai, E. H., Levitt-Katz, L. E. (2008) Parathyroid hormone reserve in 22q11.2 deletion syndrome. Genet Med., 10(3), 224-228.

Kawame, H., Adachi, M., Tachibana, K., Kurosawa, K., Ito, F., Gleason, M.M.,…McDonald-McGinn, D.M. (2001). Graves Disease in patients with 22q11.2 deletion. The Journal of Pediatrics, 139(6), 892-895.

Kawamura, T., Nimura, I., Hanafusa, M., Fujikawa, R., Okubo, M., Egusa, G., & Amakido, M. (2000). DiGeorge syndrome with Graves’ disease: A case report. Endocr J., 47(1), 91-5.

Korpaisarn, S., Trachoo, O., & Sriphrapradang, C. (2013). Chromosome 22q11. 2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features. Case reports in endocrinology, 2013.

Markert, M.L., Boeck, A., Hale, L.P., Kloster, A.L., McLaughlin, T.M., Batchvarova, M.N.,…Haynes, B.F. (1999). Transplantation pf Thymus Tissue in Complete DiGeorge Syndrome. N Engl J Med., 341(16),1180-1189.

Perkins, J. A., Sie, K., & Gray, S. (2000). Presence of 22q11 deletion in postadenoidectomy velopharyngeal insufficiency. Arch Otolaryngol Head Neck Surgery, 126(5), 645-8.

Stagi, S., Lapi, E., Gambineri, E., Salti, R., Genuardi, M., Colarusso, G.,…de Martino, M. (2009, October 26). Thyroid function and morphology in subjects with microdeletion of chromosome 22q11(del(22)(q11). Clinical Endocrinology, [Epub ahead of print].

Yoshikawa, H & Abe, T. (2003). Hypoparathyroidism and facial dysmorphism as main symptoms of 22q11 deletion syndrome. Brain and Development, 25(3), 211-214.

Zammit, A., Grech Marguerat, D., Psaila, J., & Attard, A. (2013). DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood. Case reports in medicine, 2013.

Akiba, T., Odake, A., Shirahata, E., Matsunaga, A., Sakamoto, M., & Yazaki, N. (2000). Three patients with different phenotypes in a family with chromosome 22q11.2 deletions. Pediatr Int., 42(2),183-5.

Chen, C., Chern, S., Lee, C, Lin, S., Chang, T., & Wang, W. (2004). Prenatal diagnosis of mosaic 22q11.2 microdeletion. Prenatal Diagnosis, 24(8), 660-2.

Cohen, E., Chow, E.W., Weksberg, R., & Bassett, A.S. (1999). Phenotype of Adults With the 22q11 Deletion Syndrome: A Review. Am J Med Genetics, 86, 359-365.

Cuneo, B. F. (2001). 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Current Opinion in Pediatrics, 13(5), 465-472.

de Lonlay-Debeney, P., Cormier-Daire, V., Amiel, J., Abadie, V., Odent, S., Paupe, A.,… Lyonnet, S. (1997). Features of DiGeorge Syndrome and CHARGE association in five patients. J Med Genetics, 34(12), 986-989.

Digilio, M. C. (2003). Research Letter: Screening for Celiac Disease in Patients with Deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial Syndrome). Am J Med Genetics, 121A, 286-288.

Digilio, M., Angioni, A., De Santis, M., Lombardo, A., Giannotti, A., Dallapiccola, B., & Marino, B. (2003). Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical cases. Clinical Genetics,63(4), 308-313(6).

Emanuel, B.S., McDonald-McGinn, D., Saitta, S.C., & Zackai, E.H. (2001). The 22q11.2 Deletion Syndrome – Chapter 2. Advances in Pediatrics, 8, 39-73.

Fokstuen, S., Vrticka, K., Riegel, M., Da Silva, V., Baumer, A., & Schinzel, A. (2001). Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2. Eur J Pediatr., 160, 54-57.

Goodship, J., Cross, I., Scambler, P., & Burn, J. (1995). Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genetics, 32(9), 746-8.

Hong R. (2001). The DiGeorge Anomaly. Clin Rev Allergy Immunology, 20(1), 43-60.

Jyonouchi, S., McDonald-McGinn, D. M., Bale, S., Zackai, E. H., Sullivan, K. E. (2009) CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. Pediatrics, 123 (5), e871-7.

Kasprzak, L., Der Kaloustian, V.M., Elliott, A.M., Shevell, M., Lejtenyi, C., & Eydoux, P. (1998). Deletion of 22q11 in Two Brothers with Different Phenotype. Am J Med Genetics, 75(3), 288-291.

Kerstjens-Frederikse, W.S., Kurahashi, H., Driscoll, D.A., Budarf, M.L., Emanuel, B.S., Beatty, B.,…Teshima, I. (1999). Microdeletion 22q11.2: Clinical Data and Deletion Size. J Med Genetics, 36(9), 721-723.

Koshiyama, D.B., Rosa, R.F., Zen, P.R., Pereira, V.L., Graziadio, C., Cóser, V.M., Ricachinevsky, C.P., Varella-Garcia, M., & Paskulin, G.A. (2009). 22q11.2 deletion syndrome: importance of clinical evaluation and FISH analysis. Rev Assoc Med Bras., 55(4), 442-6.

Levy-Mozziconacci, A., Piquet, C., Heurtevin, P.C., & Philip, N. (1997). Prenatal Diagnosis of 22q11 Microdeletion. Prenat Diagnosis, 17(11), 1033-1037.

Matsuoka, R., Kimura, M., Scambler, P.J., Morrow, B.E., Imamura, S., Minoshima, S.,…Momma, K. (1998). Molecular and Clinical Study of 183 Patients with Conotruncal Anomaly Face Syndrome. Human Genetics, 103(1), 70-80.

McDonald-McGinn, D.M., Minugh-Purvis, N., Kirschner, R.E., Jawad, A., Tonnesen, M.K., Catanzaro, J.R.,…Zackai, E. H. (2005). The 22q11.2 Deletion in African-American Patients: An Underdiagnosed Population? Am J Med Genetics, 134(3), 242-246.

Morava, E., Czako, M., Melegh, B., & Kosztolanyi, G. (2000). Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children. Clinical Genetics, 58(5), 403.

Ravnan, J.B., Chen, E., Golabi, M., & Lebo, R.V. (1996). Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genetics, 66(3), 250-6.

Ryan, A.K., Goodship, J.A., Wilson, D.I., Philip, N., Levy, A., Seidel, H.,…Scambler P.J. (1997). Spectrum of Clinical Features Associated with Interstitial Chromosome 22q11 Deletions: A European CollaborativeStudy. J Med Genetics, 34(10), 798-804.

Sánchez-Ramón, S., Bartolomé, J., Sánchez-Luna, M., Franco, M.L., Orera, M., Fernández-Cruz, E., Fernández-Pacheco, R.P., & Gil, J. (2000). Polydactyly in 22q11 syndrome: should it be taken into account? Clin Genetics, 58(1), 84-5.

Verhoeven, W.M.A., Tuinier, S., Engelen, J.J.M., Hollanders-Crombach, H.T.M., & Curfs, L.M.G. (2002). Velo-cardio-facial Syndrome: Clinical Report of a 70-year-old woman. Am J. Med Genetics, 111(4), 409-411.

Yamagishi, H., Ishii, C., Maeda, J., Kojima, Y., Matsuoka, R., Kimura, M., Takao, A., Momma, K., & Matsuo, N. (1998). Phenotypic Discordance in Monozygotic Twins with 22q11.2 Deletion. American Journal of Medical Genetics, 78(4), 319-321.

Bassett, A.S., McDonald-McGinn, D.M., Devriendt, K., Digilio, M.C., Goldenberg, P., Habel, A., Marino, B., Oskarsdottir, S., Philip, N., Sullivan, K., Swillen, A., Vorstman, J., and The International 22q11.2 Deletion Syndrome Consortium. (2011). Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome. J Peds, 159(2), 332-339.

Botto, L.D., May, K., Fernhoff, P.M., Correa, A., Coleman, K., Rasmussen, S.A., Campbell, R.M. (2003). A Population-Based Study of the 22q11.2 deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population. Pediatrics, 112 (1 Pt 1), 101-7.

Kobrynski, L.J., Sullivan, K.E. (2007). Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndrome. Lancet, 370, 1443-1452.

de la Morena, M. T., Eitson, J. L., Dozmorov, I. M., Belkaya, S., Hoover, A. R., Anguiano, E., … & van Oers, N. S. (2013). Signature MicroRNA expression patterns identified in humans with 22q11. 2 deletion/DiGeorge syndrome.Clinical Immunology.

Kikinis, Z., Makris, N., Finn, C. T., Bouix, S., Lucia, D., Coleman, M. J., … & Kubicki, M. (2013). Genetic contributions to changes of fiber tracts of ventral visual stream in 22q11. 2 deletion syndrome. Brain imaging and behavior, 1-10.

McDonald-McGinn, D. M., Fahiminiya, S., Revil, T., Nowakowska, B. A., Suhl, J., Bailey, A., … & Jerome-Majewska, L. A. (2013). Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11. 2DS. Journal of medical genetics, 50(2), 80-90.

McDonald-McGinn, D.M., Sullivan, K.E. (2010). Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore), 90(1), 1-18.

Roberts, C. (2013).The role of putative Tbx1 traget genes in the pathogenesis of the 22q11 Deletion Syndrome phenotype (Doctoral dissertation, UCL (University College London)).

Roth, B. M., Ishimaru, D., & Hennig, M. (2013). The core microprocessor component DiGeorge syndrome critical region 8 (DGCR8) is a nonspecific RNA-binding protein. Journal of Biological Chemistry, 288(37), 26785-26799.

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