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.
|Original language||English (US)|
|Number of pages||6|
|Journal||American Journal of Medical Genetics|
|State||Published - 1986|
ASJC Scopus subject areas