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. 1995 Mar;32(3):162–169. doi: 10.1136/jmg.32.3.162

FRAXE and mental retardation.

J C Mulley 1, S Yu 1, D Z Loesch 1, D A Hay 1, A Donnelly 1, A K Gedeon 1, P Carbonell 1, I López 1, G Glover 1, I Gabarrón 1, et al.
PMCID: PMC1050310  PMID: 7783162

Abstract

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 one generation to the next. In these respects the behaviour of FRAXE paralleled that of FRAXA. A relationship between FRAXE and non-specific mental impairment is strongly suggested by the occurrence in these families of more mentally impaired male and female carriers, after removal of index cases, than could reasonably be expected by chance.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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