| Literature DB >> 16053911 |
Thomy J L de Ravel1, Paul Thiry, Jean-Pierre Fryns.
Abstract
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.Entities:
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Year: 2005 PMID: 16053911 DOI: 10.1016/j.ejmg.2005.01.024
Source DB: PubMed Journal: Eur J Med Genet ISSN: 1769-7212 Impact factor: 2.708