[A 45 X/46 X dic (Yq) puberal male without genital ambiguity. Critical study of the peculiarities of his phenotype].
A boy with a chromosomal mosaic 45 X/46 X dic Yq is described. The unusual features were a Turner phenotype with normal genitalia and he was in puberty. It is apparent that it is not possible to blame alterations in the Y chromosome when this mosaic is associated with ambiguous genitalia or the stigmata of Turner's syndrome.
D000293:Adolescent; D004392:Dwarfism / Q000235:genetics; D006801:Humans; D008297:Male; D009030:Mosaicism; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D011627:Puberty; D012730:Sex Chromosomes; D014998:Y Chromosome
Sujet masculin pubère et sans ambiguite génitale, 45 X/46 X dic (Yq). Etude critique des particularités du phénotype.