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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 |
Published version: | http://dx.doi.org/10.1136/jmg.32.3.162 |
Appears in Collections: | Aurora harvest 2 Genetics publications |
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