FRAXE and mental retardation

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

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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 Department of Genetics, University of kindreds. Cytogenetic expression of Adelaide, Australia of the CCG expansion when transmitted through a male; however, in general, transmission occurred through females and 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 languageEnglish
Pages (from-to)162-169
Number of pages8
JournalJournal of Medical Genetics
Volume32
Issue number3
Publication statusPublished - 1 Jan 1995
Externally publishedYes

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Mulley, J. C., Yu, S., Loesch, D. Z., Hay, D. A., Donnelly, A., Gedeon, A. K., ... Sutherland, G. R. (1995). FRAXE and mental retardation. Journal of Medical Genetics, 32(3), 162-169.