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 journalArticle

40 Scopus citations

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 languageEnglish (US)
Pages (from-to)375-380
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume23
Issue number1-2
StatePublished - 1986
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)

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  • Cite this

    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.