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PMID: 1605217 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

Localization of non-specific X-linked mental retardation genes.

American journal of medical genetics ·Vol. 43 ·No. 1-2 ·1992-00-00 ·Pages 392-401

Kerr B, Gedeon A, Mulley J, Turner G

Abstract

Gene localization was determined by linkage analysis in 5 families with non-specific X-linked mental retardation (MRX) and were MRX1, Xp11.4-q21.31; MRX10, Xp21.3-p11.4; MRX11, Xp21.3-p11.22; MRX12, Xp21.3-q21.1; and MRX13, Xp22.3-q21.22. Four of these localizations cross the dystrophin brain promoter, a candidate locus for MRX. None of the affected individuals who were tested showed variation suggestive of a deletion. No consistent clinical features were observed between or within 4 of the 5 families. In MRX12, prematurity or low birth weight, hypotelorism and short stature were seen in several affected males. Heterozygote manifestations occurred in 3 families. There was no evidence to suggest involvement of the same gene in more than one family, nor to clinically separate these families into distinct genetic entities. Non-overlapping localizations for MRX1 and MRX10 demonstrate the existence of at least 2 separate loci among these 5 families.

MeSH Terms
Chromosome Mapping Female Genetic Linkage Genetic Markers Heterozygote Humans Intellectual Disability/genetics,pathology,psychology Lod Score Male Pedigree Phenotype X Chromosome
Chemicals
Genetic Markers
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Kerr B
Department of Medical Genetics, Prince of Wales Children's Hospital, Randwich, NSW, Australia.
Gedeon A
Mulley J
Turner G
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
1992-00-00
Pages
392-401
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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