Document Detail


Follow-up of adult males with chromosome 18p deletion.
MedLine Citation:
PMID:  16053911     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Thomy J L de Ravel; Paul Thiry; Jean-Pierre Fryns
Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2005-02-17
Journal Detail:
Title:  European journal of medical genetics     Volume:  48     ISSN:  1769-7212     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2005 Apr-Jun
Date Detail:
Created Date:  2005-08-01     Completed Date:  2005-09-15     Revised Date:  2008-05-28    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  189-93     Citation Subset:  IM    
Affiliation:
Center for Human Genetics, UZ Gasthuisberg, 49 Herestraat, 3000 Leuven, Belgium. Thomy.deRavel@uz.kuleuven.ac.be
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / 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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