title: Familial autism and the fragile-X chromosome.
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.
mesh_terms: D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D004200:Diseases in Twins; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*