45,X/46,XY/47,XYY mosaicism in a phenotypic female with gonadoblastoma.
A case of a phenotypic female patient with 45,X/46,XY/47,XYY mosaicism found in lymphocytes as well as in cell cultures prepared from a gonadoblastoma removed by adnexectomy is reported. The two investigated tissues displayed a different distribution of the three cell lines.
D000290:Adnexa Uteri; D000293:Adolescent; D000568:Amenorrhea / Q000175:diagnosis; D001827:Body Height; D002460:Cell Line; D002987:Clitoris / Q000002:abnormalities; D004407:Dysgerminoma / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*