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Phenotypic variability of distal 22q11.2 copy number abnormalities
Author(s) -
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.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34051
Subject(s) - copy number variation , phenotype , biology , genetics , polymicrogyria , diaphragmatic hernia , chromosome , karyotype , medicine , hernia , gene , surgery , genome , neuroscience , epilepsy
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 hernia and uterine didelphys associated with the distal microdeletion syndrome; and frontomedial polymicrogyria and callosal agenesis associated with the distal microduplication syndrome. We describe the third distal chromosome 22q11.2 microdeletion patient with Goldenhar syndrome. Patients with distal chromosome 22q11.2 copy number abnormalities exhibit inter‐ and intra‐familial phenotypic variability, and challenge our ability to draw meaningful genotype–phenotype correlations. © 2011 Wiley‐Liss, Inc.