Fragile X-linked mental retardation: the Martin-Bell syndrome.

Journal of mental deficiency research ·Vol. 25 Pt 4 ·1981-12-00 ·Pages 253-6

Richards BW, Sylvester PE, Brooker C

Abstract

Seven members of the original family of sex-linked mental retardation reported by Martin and Bell in 1943 have been re-examined and five of them proved to carry a fragile X chromosome. Some also display the typical facial appearance associated with this anomaly, and some have macro-orchidism. It is proposed that the condition should be designated "The Martin-Bell syndrome."

MeSH Terms

Aged Chromosome Fragility Facial Expression Female Humans Intellectual Disability/genetics Male Middle Aged Pedigree Sex Chromosome Aberrations/genetics Syndrome Testis/abnormalities X Chromosome

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Richards B W

Sylvester P E

Brooker C

Article Info

Journal

Journal of mental deficiency research

Abbr.

J Ment Defic Res

ISSN

0022-264X

DOI

10.1111/j.1365-2788.1981.tb00115.x

Published

1981-12-00

Pages

253-6

Language

English

Region

England

NLM ID

0375401

Subset

External Links

PubMed source DOI: 10.1111/j.1365-2788.1981.tb00115.x

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