title: 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.
authors.affiliation: Faculty of Medicine, Departments of Pediatric Genetics, Ondokuz Mayis University Medical Faculty, Samsun, Turkey.
authors.forename: Gönül
authors.initials: G
authors.lastname: Ogur
authors.forename: Faruk Güçlü
authors.initials: FG
authors.lastname: Pinarli
authors.forename: Ayhan
authors.initials: A
authors.lastname: Dağdemir
authors.forename: Sevilhan
authors.initials: S
authors.lastname: Artan
authors.forename: Ender
authors.initials: E
authors.lastname: Artürk
authors.forename: Murat
authors.initials: M
authors.lastname: Elli
authors.forename: Ozlem Türkeli
authors.initials: OT
authors.lastname: Sezer
authors.forename: Gülsen
authors.initials: G
authors.lastname: Okten
mesh_terms: D000008:Abdominal Neoplasms / Q000150:complications* / Q000235:genetics; D000293:Adolescent; D000782:Aneuploidy; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D012734:Disorders of Sex Development / Q000235:genetics* / Q000601:surgery; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006066:Gonads / Q000601:surgery*; D006801:Humans; D009006:Monosomy; D009373:Neoplasms, Germ Cell and Embryonal / Q000150:complications* / Q000235:genetics; D012729:Sex Chromosome Aberrations; D014314:Trisomy