Article
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.
Human mutation - 1 Jan 2011
Busse Tracy, Graham John M, Feldman Gerald, Perin Juan, Catherwood Anne, Knowlton Robert, Rappaport Eric F, Emanuel Beverly, Driscoll Deborah A, Saitta Sulagna C
Abstract excerpt
The 22q11 Deletion Syndrome includes the overlapping phenotypes of DiGeorge/Velocardiofacial Syndromes, characterized by conotruncal heart defects, cleft palate, thymus, and parathyroid gland dysplasia. The majority (90%) of patients harbor detectable chr22q11.2 deletions, but a genetic etiology for the remainder of patients without a deletion can remain undefined despite major birth defects. We analyzed DNA from...
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