Article
Molecular characterization of chromosome 22 deletions by short tandem repeat polymorphism (STRP) in patients with conotruncal heart defects.
Clinical chemistry and laboratory medicine - 1 Dec 2001
Vittorini S, Sacchelli M, Iascone M R, Collavoli A, Storti S, Giusti A, Andreani G, Botto N, Biagini A, Clerico A
Abstract excerpt
The haploinsufficiency of chromosome 22q11.2 can cause both DiGeorge and velocardiofacial syndromes, both of which are characterized by conotruncal heart defects as well as a wide range of other extracardiac anomalies. Several studies have demonstrated that approximately 10-20% of patients with conotruncal heart defects have a 22q11.2 deletion. In clinical laboratories, the deletion is usually detected by...
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