Germ cell tumor showing partial trisomy 1 in a gonadectomized intersex child with monosomy X and double Y mosaicism

Abstract

High incidence of germ cell tumors arising from dysgenetic gonads in patients with sexual chromosome abnormalities has been described, especially in patients with a Y chromosome bearing cell line. Here we report a 14-year-old patient with ambiguous genitalia. Constitutional karyotype showed 45,X/46,X,derY [?t(Yp;Yq)] mosaicism. The patient developed an abdominally located mixed malignant germ cell tumor 5 years after the removal of the dysgenetic gonads. Tumor karyotype showed partial trisomy 1q, a derivative 8q, and a hyperdiploidy with + X, + 7, + 12, + 15, + 19, + 21, and an unidentified marker.