Article
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
American journal of human genetics - 1 Sept 1997
Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali S R, Weissman S M, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow B E
Abstract excerpt
Velo-cardio-facial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients have hemizygous deletions for a part of 22q11, suggesting that haploinsufficiency in this region is responsible for its etiology. Because most cases of VCFS are sporadic, portions of 22q11 may be prone to rearrangement. To understand the...
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