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Extragonadal germ cell tumors are often associated with Klinefelter syndrome.
Klinefelter syndrome is a well documented abnormality of sex differentiation, with an incidence of 1 in 600 newborn males. It is characterized by a 47,XXY or a mosaic karyotype and clinical findingsExpand
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45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism
Sex differentiation in humans depends on the presence of the Y‐linked gene SRY, which is activated in the pre‐Sertoli cells of the developing gonadal primordium to trigger testicular differentiation.Expand
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Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype
Mixed gonadal dysgenesis (MGD) is a developmental anomaly in which most of the patients have a dysgenetic testis, a contralateral streak and a 45,X/46,XY karyotype. This entity involves anExpand
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Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants
Gonadoblastoma is an unusual mixed germ cell–sex cord–stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainlyExpand
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Mosaicism Causing True Hermaphroditism
Karem Nieto, Rocı́o Peña, Icela Palma, Luis M. Dorantes, Luis Eraña, Rebeca Alvarez, Ricardo Garcı́a-Cavazos, Susana Kofman-Alfaro, and Gloria Queipo* Department of Genetics, Hospital General deExpand