Phenotypic variability of distal 22q11.2 copy number abnormalities

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. and Amor, David J. (2011) Phenotypic variability of distal 22q11.2 copy number abnormalities American Journal of Medical Genetics Part A, 155, (7), pp. 1623-1633. (doi:10.1002/ajmg.a.34051). (PMID:21671380).


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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.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1002/ajmg.a.34051
ISSNs: 1552-4825 (print)
Keywords: congenital heart disease, goldenhar syndrome, microarray, microdeletion, microduplication, mullerian defects, oculo-auriculo-vertebral spectrum, polymicrogyria, 22q11.2
Organisations: Human Development & Health
ePrint ID: 202443
Date :
Date Event
July 2011Published
Date Deposited: 08 Nov 2011 10:29
Last Modified: 18 Apr 2017 01:21
Further Information:Google Scholar

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