Autism in fragile X females.
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.
D000328:Adult; D001321:Autistic Disorder / Q000209:etiology / Q000235:genetics* / Q000523:psychology; D001519:Behavior; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D004303:Dosage Compensation, Genetic; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics / Q000523:psychology; D006579:Heterozygote; D006801:Humans; D012729:Sex Chromosome Aberrations / Q000150:complications*