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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).

Record type: Article


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.

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Published date: July 2011
Keywords: congenital heart disease, goldenhar syndrome, microarray, microdeletion, microduplication, mullerian defects, oculo-auriculo-vertebral spectrum, polymicrogyria, 22q11.2
Organisations: Human Development & Health


Local EPrints ID: 202443
ISSN: 1552-4825
PURE UUID: cccac527-7fe7-4ba3-9523-cfabe85c3d45

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Date deposited: 08 Nov 2011 10:29
Last modified: 18 Jul 2017 11:11

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Author: Tiong Yang Tan
Author: Amanda Collins
Author: Paul A. James
Author: George McGillivray
Author: Zornitza Stark
Author: Christopher T. Gordon
Author: Richard J. Leventer
Author: Kate Pope
Author: Robin Forbes
Author: John A. Crolla
Author: Devika Ganesamoorthy
Author: Trent Burgess
Author: Damien L. Bruno
Author: Howard R. Slater
Author: Peter G. Farlie
Author: David J. Amor

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