XO/XY mosaicism in a 2 year phenotypic male.
A 2-year-old male with bilateral undescended gonads, hypoplastic external auditory canals, large umbilical hernia and XO/XY chromosome mosaicism is described in this communication. Salient features of other similar cases, i.e. XO/XY mosaicism in phenotypic males, from the literature are summarized, showing the wide diversity of manifestations of this syndrome.
D012734:Disorders of Sex Development / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012728:Sex Chromatin; D012730:Sex Chromosomes