Article
A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions.
Genetic testing - 1 Jan 2007
Funke Birgit H, Brown Alison C, Ramoni Marco F, Regan Maura E, Baglieri Chris, Finn Christine T, Babcock Melanie, Shprintzen Robert J, Morrow Bernice E, Kucherlapati Raju
Abstract excerpt
Velocardiofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome, now collectively referred to as 22q11deletion syndrome (22q11DS) are caused by microdeletions on chromosome 22q11. The great majority ( approximately 90%) of these deletions are 3 Mb in size. The remaining deleted patients have nested break-points resulting in overlapping regions of hemizygosity. Diagnostic testing for the...
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