Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/11473
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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
1468-6244
Statement of
Responsibility: 
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
DOI: 10.1136/jmg.32.3.162
Appears in Collections:Aurora harvest 2
Genetics publications

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