Scholarly Articles for 22q11.2 Duplication Syndrome

Scholarly Articles for 22q11.2 Duplication Syndrome

The following are publications, articles or reports related to 22q11.2 duplication research. The International 22q11.2 Foundation only posts content from reputable researchers or research institutions. In cases where summaries or overviews are provided, they are written for us or reviewed by our scientific and clinical advisors or other members of the 22q research community. Whenever possible, we will provide a link to a more detailed source of information for those who wish to understand the more technical aspects of the research findings.

 

The Intrafamilial Variability of the 22q11.2 Microduplication Encompasses a Spectrum from Minor Cognitive Deficits to Severe Congenital Anomalies

This article investigates and reports on the wide variability seen between families with the 22q11.2 Duplication Syndrome.

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A Benign Polymorphism or a Syndrome With a Very Large Clinical Variability and Reduced Penetrance? —Report of Two Families.

This article investigates and reports on the variability seen between two families with the 22q11.2 Duplication Syndrome.

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The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects. Both patients with a de novo 22q11.2 duplication and patients in whom the duplication has been inherited from a phenotypically normal parent have been reported. Read more

Ocular manifestations of the 22q11.2 duplication syndrome are examined in this paper in addition to investigation of the specific genes involved.

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To understand the duplication activity leading to the complicated structure in the 22q11.2 region, the investigators have decomposed duplication sequences termed subunits. Analysis of primate genomes gives information about how recently these subunits emerged in addition to how actively they have expanded and confirms their role in mediating recombination events.

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