Short-arm deletion of an X chromosome (45,XO/46,XX p--).
A 31-year-old female patient with short stature, signs of gonadal dysgenesis, and slight Turner signs is described with a mosaic 45,XO/46,XX del (X) (qter leads to p11) determined with trypsin Giemsa-banding and C-staining. BUdR incorporation indicated the deleted X to be late replicating.
D000328:Adult; D005260:Female; D006801:Humans; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics