Article
Phenotypic variability of distal 22q11.2 copy number abnormalities.
American journal of medical genetics. Part A - 1 Jul 2011
Tan Tiong Yang, Collins Amanda, James Paul A, McGillivray George, Stark Zornitza, Gordon Christopher T, Leventer Richard J, Pope Kate, Forbes Robin, Crolla John A, Ganesamoorthy Devika, Burgess Trent, Bruno Damien L, Slater Howard R, Farlie Peter G, Amor David J
Abstract excerpt
The availability of microarray technology has led to the recent recognition of copy number abnormalities of distal chromosome 22q11.2 that are distinct from the better-characterized deletions and duplications of the proximal region. This report describes five unrelated individuals with copy number abnormalities affecting distal chromosome 22q11.2. We report on novel phenotypic features including diaphragmatic...
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