FRAXE and mental retardation.

doi:10.1136/jmg.32.3.162

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Article

FRAXE and mental retardation.

Journal of medical genetics - 1 Mar 1995

Mulley J C, Yu S, Loesch D Z, Hay D A, Donnelly A, Gedeon A K, Carbonell P, López I, Glover G, Gabarrón I

Abstract excerpt

Mental impairment and instability of the CCG repeat at FRAXE is described in six kindreds. Cosegregation of FRAXA and FRAXE was found within one of these kindreds. Cytogenetic expression of FRAXE was shown to skip a generation when associated with a reduction in size of the CCG expansion when transmitted through a male; however, in general, transmission occurred through females and a copy number increased from...

Topics

Adolescent
Adult
Aged
Blotting, Southern
Child
Chromosome Fragility
Cytogenetics
Family Health
Female
Fragile X Syndrome
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

In Situ Hybridization, Fluorescence

Intellectual Disability

Intelligence

Intelligence Tests

Male

Middle Aged

Source

Open in PubMed Open full text

Identifiers

PMID: 7783162
DOI: 10.1136/jmg.32.3.162
PMCID: PMC1050310

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7783162-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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