| Follow-up of adult males with chromosome 18p deletion. | |
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MedLine Citation:
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PMID: 16053911 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The 18p- syndrome has been known for over 40 years, the first report being by de Grouchy et al. [Comptes Rendus Hebdomadaires Séances l'Acad Sci 256 (1963) 1028]. Mental retardation of varying severity is the most constant feature. Over 100 cases have been reported. The eldest patients have been 50 years [Hum Genet 63 (1983) 139; Clin Genet 2 (1971) 338]. Follow-up of two adult patients, then 22 and 42 years [Ann Génét 29 (1986) 107], now 42 and 62 years of age, is reported. Further case reports are required in order to better define the evolution of adult patients with the 18p- syndrome. |
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Authors:
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Thomy J L de Ravel; Paul Thiry; Jean-Pierre Fryns |
Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2005-02-17 |
Journal Detail:
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Title: European journal of medical genetics Volume: 48 ISSN: 1769-7212 ISO Abbreviation: Eur J Med Genet Publication Date: 2005 Apr-Jun |
Date Detail:
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Created Date: 2005-08-01 Completed Date: 2005-09-15 Revised Date: 2008-05-28 |
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: 189-93 Citation Subset: IM |
Affiliation:
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Center for Human Genetics, UZ Gasthuisberg, 49 Herestraat, 3000 Leuven, Belgium. Thomy.deRavel@uz.kuleuven.ac.be |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
pathology,
physiopathology Adult Chromosome Deletion* Chromosomes, Human, Pair 18 / genetics* Female Follow-Up Studies Humans Male Mental Retardation / genetics*, physiopathology Middle Aged Phenotype Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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