Familial autism and the fragile-X chromosome

Gerald J. August, Lillian H. Lockhart

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

This report presents two male siblings in whom the diagnosis of infantile autism was found in association with a fragile site on the X chromosome. In addition to their marked autistic characteristics, formal examinations indicated that both boys were severely mentally retarded and had several physical features commonly observed in association with the fragile-X syndrome. The mother of these two siblings also gave birth to identical twin boys, who were developmentally delayed and showed several autistic features prior to their untimely death in a house fire. The possible role of the fragile-X chromosome as an etiological factor in families where there is a clustering of autism and related developmental disturbances is discussed.

Original languageEnglish (US)
Pages (from-to)197-204
Number of pages8
JournalJournal of Autism and Developmental Disorders
Volume14
Issue number2
DOIs
StatePublished - Jun 1 1984

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