Unstable dicentric iso(Yq) chromosome in a pseudohermaphrodite.
An infant with ambiguous genitalia, uterus, tubes, and bilaterally undescended testes was found to have an unstable dicentric Yq chromosome, and 45,X/46,X,dic i(Yq)/47,X,i(Yq) i(Yq) mosaicism in lymphocytes and fibroblasts. A few other minor cell lines were found in peripheral blood lymphocytes. These findings indicate a high degree of mitotic instability in the centromere of the dicentric i(Yq) chromosome in this patient.
D002869:Chromosome Aberrations; D002875:Chromosomes / Q000648:ultrastructure; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006066:Gonads / Q000473:pathology; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D009030:Mosaicism; D012730:Sex Chromosomes; D014998:Y Chromosome