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

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

Research output: Contribution to journal › Article › peer-review

79 Citations (Scopus)

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 language	English
Pages (from-to)	162-169
Number of pages	8
Journal	Journal of Medical Genetics
Volume	32
Issue number	3
Publication status	Published - 1 Jan 1995
Externally published	Yes

Cite this

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title = "FRAXE and mental retardation",

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.",

author = "Mulley, {J. C.} and S. Yu and Loesch, {D. Z.} and Hay, {D. A.} and A. Donnelly and Gedeon, {A. K.} and P. Carbonell and I. Lopez and G. Glover and I. Gabarron and Yu, {P. W.L.} and E. Baker and Haan, {E. A.} and A. Hockey and Knight, {S. J.L.} and Davies, {K. E.} and Richards, {R. I.} and Sutherland, {G. R.}",

year = "1995",

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language = "English",

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pages = "162--169",

journal = "Journal of Medical Genetics",

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TY - JOUR

T1 - FRAXE and mental retardation

AU - Mulley, J. C.

AU - Yu, S.

AU - Loesch, D. Z.

AU - Hay, D. A.

AU - Donnelly, A.

AU - Gedeon, A. K.

AU - Carbonell, P.

AU - Lopez, I.

AU - Glover, G.

AU - Gabarron, I.

AU - Yu, P. W.L.

AU - Baker, E.

AU - Haan, E. A.

AU - Hockey, A.

AU - Knight, S. J.L.

AU - Davies, K. E.

AU - Richards, R. I.

AU - Sutherland, G. R.

PY - 1995/1/1

Y1 - 1995/1/1

N2 - 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.

AB - 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.

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M3 - Article

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AN - SCOPUS:0028933941

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VL - 32

SP - 162

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JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 3

ER -

FRAXE and mental retardation

Abstract

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