Autism in fragile X females
- 1 January 1986
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 23 (1-2) , 375-380
- https://doi.org/10.1002/ajmg.1320230129
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.Keywords
This publication has 22 references indexed in Scilit:
- Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence.Journal of Medical Genetics, 1985
- Fragile X-chromosome among child psychiatric patients with disturbances of language and social relationships.Acta Psychiatrica Scandinavica, 1984
- The marker (X) syndrome: a cytogenetic and genetic analysisAnnals of Human Genetics, 1984
- The fragile X syndrome I: Familial variation in the proportion of lymphocytes with the fragile site in malesAmerican Journal of Medical Genetics, 1984
- Autism and the Fragile X SyndromeJournal of Developmental & Behavioral Pediatrics, 1983
- Identical Triplets with Infantile Autism and the Fragile-X SyndromeThe British Journal of Psychiatry, 1983
- Fragile (X) X-linked mental retardation I: Relationship between age and intelligence and the frequency of expression of fragil (X)(q28)American Journal of Medical Genetics, 1983
- The diagnosis and frequency of X‐linked conditions in a cohort of moderately retarded males with affected brothersAmerican Journal of Medical Genetics, 1983
- Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.Journal of Medical Genetics, 1982
- X‐linked mental retardation: A study of 7 familiesAmerican Journal of Medical Genetics, 1980