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

Ogur G., Pinarli F. G., Dagdemir A., ARTAN S., Ariturk E., Elli M., ...More

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.28, no.11, pp.750-754, 2006 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 11
  • Publication Date: 2006
  • Doi Number: 10.1097/01.mph.0000243651.33561.d4
  • Journal Name: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.750-754
  • Keywords: germ cell tumor, cytogenetics, gonadal dysgenesis, double Y chromosome, DYSGENETIC GONADS, CHROMOSOME-ABNORMALITIES, GONADOBLASTOMA, CYTOGENETICS, SEQUENCES, TERATOMAS, AGE, 1Q
  • Ondokuz Mayıs University Affiliated: Yes

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.