X-linked mental retardation with macro-orchidism and marker X chromosomes.

Human genetics ·Vol. 50 ·No. 3 ·1979-09-00 ·Pages 247-51

Howard-Peebles PN, Stoddard GR

Abstract

A family with X-linked mental retardation and a marker X chromosome was ascertained by the presence of macro-orchidism in the three institutionalized probands. Verbal evaluation revealed a generalized language disability with commonly occurring articulation errors. The heterozygous females in this family exhibited some reduction in mental ability; the marker X chromosome was demonstrated in both sexes.

MeSH Terms

Female Genetic Carrier Screening Humans Intellectual Disability/genetics Karyotyping Male Middle Aged Pedigree Sex Chromosome Aberrations/genetics Sex Chromosomes Testicular Diseases/genetics X Chromosome

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Howard-Peebles P N

Stoddard G R

References (11)

11 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00399389

Published

1979-09-00

Pages

247-51

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00399389 View journal details

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X-linked mental retardation with macro-orchidism and marker X chromosomes.

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