Germ Cell Tumor Showing Partial Trisomy 1 in a Gonadectomized Intersex Child With Monosomy X and Double Y Mosaicism


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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.

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