[A case of Turner's syndrome in 45,X/46,XXp- mosaicism associated with colour-blindness (author's transl)].
We have reported the study of a young girl aged 19 suffering from a gonadal dysgenesis the chromosomal complement of which is 45,X/46,XXp-. The analysis of the transmission of Xg group was insufficient to demonstrate with certainty the origin of the pathological X. The tests indicating the ability to discriminate colours (Ishihara's test and anomaloscopy) showed a protanopia, probably of paternal origin. Hence, the Xp- probably comes from the mother.
D000328:Adult; D001345:Autoradiography; D002875:Chromosomes; D003117:Color Vision Defects / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010375:Pedigree; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*
Un cas de syndrome de Turner en mosaïque 45,X/46,XXp- associé à un daltonisme