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PMID: 10819017 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers.

Human genetics ·Vol. 59 ·No. 1 ·1981-00-00 ·Pages 23-5

Nielsen KB, Tommerup N, Poulsen H, Mikkelsen M

Abstract

A large family is reported in which mental retardation associated with the fragile site at Xq28 was found. Three normal males seemed to have transmitted the trait through their daughters to affected grandchildren. A total of 19 family members were investigated cytogenetically. Mentally retarded males showed macroorchidism and the fragile X. Three mentally retarded females were found, with the fragile X in a high percentage of cells; in contrast, the obligate carriers showed no or only few cells with the fragile X.

MeSH Terms
Adolescent Adult Aged Chromosome Fragile Sites Chromosome Fragility Female Genetic Linkage Heterozygote Humans Intellectual Disability/genetics Male Middle Aged Pedigree Sex Chromosomes/ultrastructure Testis/pathology X Chromosome
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Nielsen K B
John F. Kennedy Institute, Glostrup, Denmark.
Tommerup N
Poulsen H
Mikkelsen M
References (10)
10 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00278849
Published
1981-00-00
Pages
23-5
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00278849 View journal details
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