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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.

Original publication

DOI

10.1136/jmg.32.3.162

Type

Journal article

Journal

J Med Genet

Publication Date

03/1995

Volume

32

Pages

162 - 169

Keywords

Adolescent, Adult, Aged, Blotting, Southern, Child, Chromosome Fragility, Cytogenetics, Family Health, Female, Fragile X Syndrome, Heterozygote, Humans, In Situ Hybridization, Fluorescence, Intellectual Disability, Intelligence, Intelligence Tests, Male, Middle Aged, Pedigree, Phenotype, Polymerase Chain Reaction, Repetitive Sequences, Nucleic Acid, X Chromosome