| A novel 2.43 Mb deletion of 7q11.22-q11.23. | |
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MedLine Citation:
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PMID: 19012340 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Moira Blyth; Sarah Beal; Shuwen Huang; John Crolla; Nicola Foulds |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 Dec |
Date Detail:
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Created Date: 2008-12-01 Completed Date: 2009-01-21 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 3206-10 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2008 Wiley-Liss, Inc. |
Affiliation:
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Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK. moira.blyth@suht.swest.nhs.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Base Pairing
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genetics* Chromosomes, Human, Pair 7 / genetics* Comparative Genomic Hybridization Gene Deletion Humans Infant Male Sequence Deletion* Williams Syndrome / genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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