Autistic disorder associated with an iso-dicentric Y chromosome.
The relationship between a fragile site on the X chromosome and autism has been well documented. The authors report a three-year-old child with partial duplication of the short arm of chromosome Y, who had an autistic disorder. He was microcephalic, but otherwise had a normal phenotype. There was a history of preterm birth and maternal diabetes. This is the sixth case of sex chromosome Y aneuploidy associated with autism, but the first with an isodicentric Y. In well-substantiated cases of autism, clinicians should now consider abnormalities of the Y as well as the X chromosome.
Blackman
J A
JA
Kluge Children's Rehabilitation Center and Research Institute, University of Virginia, Charlottesville 22901.
Selzer
S C
SC
Patil
S
S
Van Dyke
D C
DC
D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D015342:DNA Probes; D006801:Humans; D007621:Karyotyping; D008297:Male; D009460:Neurologic Examination; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D014998:Y Chromosome
D015342:DNA Probes