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
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
December 2008
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), .
(doi:10.1002/ajmg.a.32584).
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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Published date: December 2008
Keywords:
williams syndrome, elastin, chromosome deletion 7q11.22-q11.23, array CGH
Identifiers
Local EPrints ID: 69742
URI: http://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: 13 Mar 2024 19:43
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Contributors
Author:
Moira Blyth
Author:
Sarah Beal
Author:
Shuwen Huang
Author:
John Crolla
Author:
Nicola Foulds
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