Down's syndrome 47, XX,+21 with agonadism.
A girl with 47, XX,+21 Down's syndrome presenting labio-scrotal fusion and clitoral hypertrophy is reported. Anatomo-pathologic examination of the patient revealed the absence of the gonads and rudimentary Fallopian tubes. Botal's orifice was also present. This association, the first to be encountered so far, seems fortuitious.
D002874:Chromosome Mapping; D002904:Chromosomes, Human, 21-22 and Y; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D007223:Infant