Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives.

Human genetics ·Vol. 53 ·No. 1 ·1979-00-00 ·Pages 23-7

Sutherland GR

Abstract

The fragile site at Xq27 which is associated with X-linked retardation with macroorchidism has been studied in 21 retarded males. These males were from 12 families, and studies of nine of the familes were possible. Detection of carrier females is difficult, especially with increasing age. The fragile site was demonstrated in only five of 13 obligate carrier females. It is concluded that using present methods, cytogenetic detection of carriers is fairly reliable in females aged less than 20--25 years but unreliable in older females.

MeSH Terms

Adolescent Adult Age Factors Aged Child Child, Preschool Chromosome Banding Female Genetic Carrier Screening Genetic Linkage Genetic Testing Humans Infant Intellectual Disability/genetics Male Middle Aged Pedigree Sex Chromosomes Syndrome Testis/abnormalities X Chromosome

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Sutherland G R

References (14)

14 references, click to expand

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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00289445

Published

1979-00-00

Pages

23-7

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00289445 View journal details

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Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives.

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