Gonadal dysgenesis with 45,X/46,X,dic(Yp) mosaicism.
A female patient with a gonodal mucinous cystadenoma on the right side and a gonadoblastoma on the left was found to be a 45,X/46,X,dic (Yp) mosaic. This brings the total number of cases with dicentric Y chromosome reported to date to 23. Together with the available evidence, the information derived from this case supports the hypothesis that the gene on the long arm of the Y chromosome is responsible for the initiation of testicular differentiation, whereas that on the short arm is responsible for the maturation of the testes.
D000293:Adolescent; D003537:Cystadenoma / Q000235:genetics*; D004407:Dysgerminoma / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D010051:Ovarian Neoplasms / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*