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Case Reports
. 1986 Jan-Feb;23(1-2):375-80.
doi: 10.1002/ajmg.1320230129.

Autism in fragile X females

Case Reports

Autism in fragile X females

R J Hagerman et al. Am J Med Genet. 1986 Jan-Feb.

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.

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