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A novel 2.43 Mb deletion of 7q11.22-q11.23

A novel 2.43 Mb deletion of 7q11.22-q11.23
A novel 2.43 Mb deletion of 7q11.22-q11.23
We present a patient with a novel heterozygous deletion of 7q11.22-q11.23. Standard cytogenetic analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome. Although he has supravalvular aortic stenosis and peripheral pulmonary artery stenosis, which are common in this condition, he does not have the clinical gestalt of Williams syndrome. 44k oligo array CGH analysis showed a 2.43 Mb deletion, encompassing the proximal 1.43 kb of the Williams syndrome critical region and extending approximately 1 Mb beyond it. The deletion of further genes outside the Williams syndrome critical region does not appear to be having a phenotypic effect at present
williams syndrome, elastin, chromosome deletion 7q11.22-q11.23, array CGH
1552-4825
3206-3210
Blyth, Moira
705de667-3ac5-4ec0-b4e6-316553bdfb38
Beal, Sarah
4fb1929c-948a-4e1b-b874-f0056662a640
Huang, Shuwen
44f28908-02b8-46d7-822c-e6a9e7981723
Crolla, John
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e
Blyth, Moira
705de667-3ac5-4ec0-b4e6-316553bdfb38
Beal, Sarah
4fb1929c-948a-4e1b-b874-f0056662a640
Huang, Shuwen
44f28908-02b8-46d7-822c-e6a9e7981723
Crolla, John
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e

Blyth, Moira, Beal, Sarah, Huang, Shuwen, Crolla, John and Foulds, Nicola (2008) A novel 2.43 Mb deletion of 7q11.22-q11.23. American Journal of Medical Genetics: Part A, 146A (24), 3206-3210. (doi:10.1002/ajmg.a.32584).

Record type: Article

Abstract

We present a patient with a novel heterozygous deletion of 7q11.22-q11.23. Standard cytogenetic analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome. Although he has supravalvular aortic stenosis and peripheral pulmonary artery stenosis, which are common in this condition, he does not have the clinical gestalt of Williams syndrome. 44k oligo array CGH analysis showed a 2.43 Mb deletion, encompassing the proximal 1.43 kb of the Williams syndrome critical region and extending approximately 1 Mb beyond it. The deletion of further genes outside the Williams syndrome critical region does not appear to be having a phenotypic effect at present

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More information

Published date: December 2008
Keywords: williams syndrome, elastin, chromosome deletion 7q11.22-q11.23, array CGH

Identifiers

Local EPrints ID: 69742
URI: https://eprints.soton.ac.uk/id/eprint/69742
ISSN: 1552-4825
PURE UUID: b9e8fc79-bd82-44a1-8083-a342a5270270

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Date deposited: 04 Dec 2009
Last modified: 19 Jul 2019 23:47

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Contributors

Author: Moira Blyth
Author: Sarah Beal
Author: Shuwen Huang
Author: John Crolla
Author: Nicola Foulds

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