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Phenotypic variability of distal 22q11.2 copy number abnormalities

Phenotypic variability of distal 22q11.2 copy number abnormalities
Phenotypic variability of distal 22q11.2 copy number abnormalities
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.
congenital heart disease, goldenhar syndrome, microarray, microdeletion, microduplication, mullerian defects, oculo-auriculo-vertebral spectrum, polymicrogyria, 22q11.2
1552-4825
1623-1633
Tan, Tiong Yang
412cac40-1743-41bc-9969-3bf36325b5f3
Collins, Amanda
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James, Paul A.
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McGillivray, George
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Stark, Zornitza
ac18f626-0649-4cf7-a0b0-0aa3a4506b4d
Gordon, Christopher T.
02c1211b-e91c-4a21-8bfd-2c30d1e1d0cf
Leventer, Richard J.
937fd59d-d553-4cde-a259-739d29b051be
Pope, Kate
3401c9f6-1bd1-4eae-aa5e-07b0444fd15a
Forbes, Robin
c81c0896-d1ad-483e-b060-1d08121e5447
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Ganesamoorthy, Devika
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Burgess, Trent
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Bruno, Damien L.
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Slater, Howard R.
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Farlie, Peter G.
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Amor, David J.
b00d6e4f-029b-45d4-8639-418bd22f7066
Tan, Tiong Yang
412cac40-1743-41bc-9969-3bf36325b5f3
Collins, Amanda
c314bd0c-2043-471a-8db2-7b7a1a008ce0
James, Paul A.
9fb2dc20-8439-4f29-9587-72caa150f0f9
McGillivray, George
f86a00b8-c700-48a6-a427-11b4fcec1178
Stark, Zornitza
ac18f626-0649-4cf7-a0b0-0aa3a4506b4d
Gordon, Christopher T.
02c1211b-e91c-4a21-8bfd-2c30d1e1d0cf
Leventer, Richard J.
937fd59d-d553-4cde-a259-739d29b051be
Pope, Kate
3401c9f6-1bd1-4eae-aa5e-07b0444fd15a
Forbes, Robin
c81c0896-d1ad-483e-b060-1d08121e5447
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Ganesamoorthy, Devika
a7275824-db7a-4bd2-b70d-434d65d0bc3f
Burgess, Trent
5ff9a40b-2600-4950-8b96-8d67dc85e0d5
Bruno, Damien L.
4c91083b-b3f5-493a-8b6a-8a5d254d56e1
Slater, Howard R.
7c064c19-2119-4d36-bb0c-1960dd765fc1
Farlie, Peter G.
1965d81c-141a-4650-93c8-8f36dc1e0eb0
Amor, David J.
b00d6e4f-029b-45d4-8639-418bd22f7066

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), 1623-1633. (doi:10.1002/ajmg.a.34051). (PMID:21671380)

Record type: Article

Abstract

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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More information

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

Identifiers

Local EPrints ID: 202443
URI: http://eprints.soton.ac.uk/id/eprint/202443
ISSN: 1552-4825
PURE UUID: cccac527-7fe7-4ba3-9523-cfabe85c3d45

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Date deposited: 08 Nov 2011 10:29
Last modified: 14 Mar 2024 04:23

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Contributors

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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