Publications (2)3.55 Total impact
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Article: The Mayer-Rokitansky-Kuster-Hauser and gonadal dysgenesis anomaly in a girl with 45,X/46,X,del(X)(p11.21).
American Journal of Medical Genetics Part A 02/2008; 146A(1):128-31. · 2.39 Impact Factor -
Article: 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.Journal of Pediatric Hematology/Oncology 12/2006; 28(11):750-4. · 1.16 Impact Factor