title: A case of ring Y chromosome.
abstract: Ring Y chromosome 45,X/46,X,r(Y) was identified by fluorescence in a child with ambiguous external genitalia, urogenital sinus, vagina, uterus, and Fallopian tubes. Testicular tissue was noted on gonadal biopsy.
mesh_terms: D012734:Disorders of Sex Development / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D012730:Sex Chromosomes; D014998:Y Chromosome