[A case of sex determining region of the Y positive 45XO/46 X+mar male].
A 31-year-old man with a chromosomal abnormality 45XO/46X+mar is reported. He was phenotypically a normal male except for azoospermia and small testes. The endoscopic and transrectal ultrasonographic examinations revealed no abnormalities in his internal genitourinary organs. The existence of the sex determining gene "SRY" was confirmed by the PCR method. This suggests that his marker chromosome is a fragment of the short arm of Y chromosome.
Nagai
T
T
Department of Urology, Nishio Municipal Hospital.
Sakakibara
T
T
D000328:Adult; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D012732:Sex Determination Analysis; D014998:Y Chromosome
D004268:DNA-Binding Proteins