FRAXE and mental retardation

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dc.contributor.authorMulley, J.
dc.contributor.authorYu, S.
dc.contributor.authorLoesch, D.
dc.contributor.authorHay, D.
dc.contributor.authorDonnelly, A.
dc.contributor.authorGedeon, A.
dc.contributor.authorCarbonell, P.
dc.contributor.authorLopez, I.
dc.contributor.authorGlover, G.
dc.contributor.authorGarbarron, I.
dc.contributor.authorYu, P.
dc.contributor.authorBaker, E.
dc.contributor.authorHaan, E.
dc.contributor.authorHockey, A.
dc.contributor.authorKnight, S.
dc.contributor.authorDaview, K.
dc.contributor.authorRichards, R.
dc.contributor.authorSutherland, G.
dc.date.issued1995
dc.description.abstractMental 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.
dc.description.statementofresponsibilityJ 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
dc.identifier.citationJournal of Medical Genetics, 1995; 32(3):162-169
dc.identifier.doi10.1136/jmg.32.3.162
dc.identifier.issn0022-2593
dc.identifier.issn1468-6244
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]
dc.identifier.urihttp://hdl.handle.net/2440/11473
dc.language.isoen
dc.publisherBritish Medical Association
dc.source.urihttps://doi.org/10.1136/jmg.32.3.162
dc.subjectX Chromosome
dc.subjectHumans
dc.subjectFragile X Syndrome
dc.subjectChromosome Fragility
dc.subjectBlotting, Southern
dc.subjectIn Situ Hybridization, Fluorescence
dc.subjectPolymerase Chain Reaction
dc.subjectPedigree
dc.subjectIntelligence
dc.subjectIntelligence Tests
dc.subjectCytogenetics
dc.subjectRepetitive Sequences, Nucleic Acid
dc.subjectHeterozygote
dc.subjectPhenotype
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectMiddle Aged
dc.subjectChild
dc.subjectFamily Health
dc.subjectFemale
dc.subjectMale
dc.subjectIntellectual Disability
dc.titleFRAXE and mental retardation
dc.typeJournal article
pubs.publication-statusPublished

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