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PMID: 6237176 Published · ppublish fre English Abstract Journal Article Research Support, Non-U.S. Gov't Review

[Mental retardation linked to fragility of chromosome X: current knowledge].

Le retard mental lié à la fragilité du chromosome X: connaissances actuelles.

Journal de genetique humaine ·Vol. 32 ·No. 3 ·1984-07-00 ·Pages 167-92

Mattei JF, Mattei MG, Auger M, Giraud F

Abstract

The association of the fragile X chromosome with X-linked mental retardation is now well established. The main clinical features are mental retardation, typical facial dysmorphism and macroorchidism. Cytogenetically there is a fragile site in band Xq27-28 which can be demonstrated using specific techniques. The genetic studies are compatible with a X-linked dominant inheritance with an incomplete penetrance. A preliminary estimation of an overall frequency of 1: 2000 males for the fra(X)(q) condition is suggested.

MeSH Terms

Bromodeoxyuridine/pharmacology Child Chromosome Banding Ear, External/abnormalities Face/abnormalities Floxuridine/pharmacology Folic Acid/pharmacology Fragile X Syndrome/diagnosis,genetics Gene Frequency Genetic Linkage Glucosephosphate Dehydrogenase/genetics Humans Intellectual Disability/genetics Lymphocytes/analysis Male Pedigree Prenatal Diagnosis Sex Chromosome Aberrations/genetics

Chemicals

Floxuridine Folic Acid Glucosephosphate Dehydrogenase Bromodeoxyuridine

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Mattei J F

Mattei M G

Auger M

Giraud F

Article Info

Journal

Journal de genetique humaine

Abbr.

J Genet Hum

ISSN

0021-7743

Published

1984-07-00

Pages

167-92

Language

fre

Region

Switzerland

NLM ID

2983308R

Subset

External Links

PubMed source

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[Mental retardation linked to fragility of chromosome X: current knowledge].

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