Fragile X trait in a large kindred: transmission also through normal males.

Journal of medical genetics ·Vol. 20 ·No. 4 ·1983-08-00 ·Pages 286-9

Van Roy BC, De Smedt MC, Raes RA, Dumon JE, Leroy JG

Abstract

In the pedigree reported here two apparently normal males may have transmitted the fragile X chromosome. Eighteen family members were examined cytogenetically. The fragile X was detected in a high percentage of cells from nine mentally retarded members of this family (six males and three females) and in one female obligate carrier. Four other obligate carriers showed no or only a few cells with the fragile X.

MeSH Terms

Chromosomes, Human/ultrastructure Female Fragile X Syndrome/genetics Humans Intellectual Disability/genetics Karyotyping Male Pedigree Sex Chromosome Aberrations/genetics

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Van Roy B C

De Smedt M C

Raes R A

Dumon J E

Leroy J G

References (10)

10 references, click to expand

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Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.
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X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.
J Pediatr. 1980 May;96(5):837-41 PMID: 7189210
Familial X-linked mental retardation and fragile X chromosomes in two Swedish families.
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Fragile X in a normal male: a cautionary tale.
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Transmission of fragile (X) (q27) site from a male.
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Fragile X-linked mental retardation: the Martin-Bell syndrome.
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Marker X syndrome in an oriental family with probable transmission by a normal male.
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Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.20.4.286

Published

1983-08-00

Pages

286-9

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1049121

Subset

External Links

PubMed source DOI: 10.1136/jmg.20.4.286 PMC Full Text View journal details

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Fragile X trait in a large kindred: transmission also through normal males.

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