Follow-up of adult males with chromosome 18p deletion

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 ...

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Bibliographic Details
Published in:European journal of medical genetics 2005-04, Vol.48 (2), p.189-193
Main Authors: de Ravel, Thomy J.L., Thiry, Paul, Fryns, Jean-Pierre
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Abnormalities, Multiple - physiopathology
Adult
Biological and medical sciences
Chromosome aberrations
Chromosome Deletion
Chromosomes, Human, Pair 18 - genetics
Female
Follow-Up Studies
General aspects. Genetic counseling
Humans
Intellectual Disability - genetics
Intellectual Disability - physiopathology
Male
Medical genetics
Medical sciences
Middle Aged
Phenotype
Syndrome
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2005.01.024