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Autism in fragile X females

1986; Wiley; Volume: 23; Issue: 1-2 Linguagem: Inglês

10.1002/ajmg.1320230129

1096-8628

Randi J. Hagerman, Albert E. Chudley, Joan H.M. Knoll, Alfred W. Jackson, Melinda B. Kemper, Razia S. Ahmad, John M. Opitz, James F. Reynolds,

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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.