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Type: Journal article
Title: FRAXE and mental retardation
Author: Mulley, J.
Yu, S.
Loesch, D.
Hay, D.
Donnelly, A.
Gedeon, A.
Carbonell, P.
Lopez, I.
Glover, G.
Garbarron, I.
Yu, P.
Baker, E.
Haan, E.
Hockey, A.
Knight, S.
Daview, K.
Richards, R.
Sutherland, G.
Citation: Journal of Medical Genetics, 1995; 32(3):162-169
Publisher: British Medical Association
Issue Date: 1995
ISSN: 0022-2593
Statement of
J C Mulley, S Yu, D Z Loesch, D A Hay, A Donnelly, A K Gedeon, P Carbonell, I Lopez, G Glover, I Gabarron, P W L Yu, E Baker, E A Haan, A Hockey, S J L Knight, K E Davies, R I Richards, G R Sutherland
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.
Keywords: X Chromosome; Humans; Fragile X Syndrome; Chromosome Fragility; Blotting, Southern; In Situ Hybridization, Fluorescence; Polymerase Chain Reaction; Pedigree; Intelligence; Intelligence Tests; Cytogenetics; Repetitive Sequences, Nucleic Acid; Heterozygote; Phenotype; Adolescent; Adult; Aged; Middle Aged; Child; Family Health; Female; Male; Intellectual Disability
RMID: 0030004287
DOI: 10.1136/jmg.32.3.162
Appears in Collections:Genetics publications

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