| Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay. | |
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MedLine Citation:
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PMID: 20197130 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Wolf-Hirschhorn Syndrome (WHS) is caused by deletions on chromosome 4p and is clinically well defined. Genotype-phenotype correlations of patients with WHS point to a critical locus to be responsible for the main characteristics of this disorder. Submicroscopic duplications of this region, however, are not known. Here we report a patient with an interstitial 560 kb duplication overlapping this critical locus. The present case shows that not only deletions but also duplications of the Wolf-Hirshhorn critical region cause mental retardation and multiple congenital anomalies. Interestingly, the duplication phenotype overlaps partially with the deletion phenotype. However, his facial phenotype differs from the typical WHS gestalt. |
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Authors:
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Femke Hannes; Malgorzata Drozniewska; Joris R Vermeesch; Olga Haus |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-03-01 |
Journal Detail:
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Title: European journal of medical genetics Volume: 53 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2010 May-Jun |
Date Detail:
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Created Date: 2010-05-17 Completed Date: 2010-10-12 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: 136-40 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier Masson SAS. All rights reserved. |
Affiliation:
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Centre for Human Genetics, University Hospital, K.U. Leuven, Herestraat 49, 3000 Leuven, Belgium. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosomes, Human, Pair 4
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genetics Comparative Genomic Hybridization Developmental Disabilities / genetics* Facies Gene Duplication* Genotype Humans In Situ Hybridization, Fluorescence Infant Karyotyping Male Mental Retardation / genetics Models, Genetic Phenotype Wolf-Hirschhorn Syndrome / genetics* |
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