A case of true hermaphroditism with 45X/46XY mosaicism.
The authors describe a case of true hermaphroditism of mainly female phenotype, ambiguous genitalia, and ovotestis. The cytogenetic revealed 45X/46XY mosaicism and an absence of Barr bodies.
D000293:Adolescent; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010053:Ovary / Q000473:pathology; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D013737:Testis / Q000473:pathology