| Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature. | |
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MedLine Citation:
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PMID: 20969981 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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We describe a 6-year-old boy carrying a de novo 5Mb interstitial deletion of chromosome 8p23.1 identified by means of oligonucleotide array comparative genomic hybridisation (array CGH), who showed the typical signs of 8p23.1 deletion syndrome, including congenital heart defects, microcephaly, psychomotor delay and behavioural problems. In order to estimate the role of suggested candidate genes, we compared the deletion of our patient with other previously reported and molecularly characterised deletions that have been re-evaluated on the basis of the current genetic map data. The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself. |
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Authors:
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Lucia Ballarati; Anna Cereda; Rossella Caselli; Angelo Selicorni; Maria P Recalcati; Silvia Maitz; Palma Finelli; Lidia Larizza; Daniela Giardino |
Publication Detail:
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Type: Journal Article Date: 2010-10-20 |
Journal Detail:
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Title: European journal of medical genetics Volume: 54 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2011 Jan-Feb |
Date Detail:
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Created Date: 2011-02-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 55-9 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Laboratorio Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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