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 › peer-review

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)

Cite this

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title = "Autism in fragile X females",

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.",

author = "Hagerman, {Randi J} and Chudley, {A. E.} and Knoll, {J. H.} and Jackson, {A. W.} and M. Kemper and R. Ahmad",

year = "1986",

language = "English (US)",

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journal = "American Journal of Medical Genetics",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

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T1 - Autism in fragile X females

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.

AB - 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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M3 - Article

C2 - 3953655

AN - SCOPUS:0022610146

VL - 23

SP - 375

EP - 380

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 1552-4825

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Autism in fragile X females

Abstract

ASJC Scopus subject areas

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