Autism in fragile X females

Randi J Hagerman; A. E. Chudley; J. H. Knoll; A. W. Jackson; M. Kemper; R. Ahmad

Autism in fragile X females

Randi J Hagerman, A. E. Chudley, J. H. Knoll, A. W. Jackson, M. Kemper, R. Ahmad

Research output: Contribution to journal › Article

Abstract

We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.

Original language	English (US)
Pages (from-to)	375-380
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	23
Issue number	1-2
State	Published - 1986
Externally published	Yes

ASJC Scopus subject areas

Genetics(clinical)

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Hagerman, R. J., Chudley, A. E., Knoll, J. H., Jackson, A. W., Kemper, M., & Ahmad, R. (1986). Autism in fragile X females. American Journal of Medical Genetics, 23(1-2), 375-380.

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abstract = "We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.",

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AU - Hagerman, Randi J

AU - Chudley, A. E.

AU - Knoll, J. H.

AU - Jackson, A. W.

AU - Kemper, M.

AU - Ahmad, R.

PY - 1986

Y1 - 1986

N2 - We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome in females.

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