Y Chromosome Sequences in Turner's Syndrome: Association with Virilization and Gonadoblastoma

• DOI: 10.1515/jpem.2003.16.8.1157
• Publication Date: 2011-04-15T10:56:31Z
• Authors: E.E. Mancilla; H. Poggi; G. Repetto; H. Rumie; H. Garcia; F. Ugarte; S. Hidalgo; A. Jara; S. Muzzo; E. Panteon; I. Torrealba; A. Foradori; A. Cattani
• Keywords: Gonadoblastoma; Testis determining factor; Virilization; Dysgerminoma; Ring chromosome

The presence of Y chromosome fragments in patients with Turner's syndrome is known to increase the risk gonadoblastoma and virilization. material detected up 6% by karyotype. By DNA analysis, sequences have been reported 0-60% patients. putative gene has mapped pericentromeric region increasing interest studying these sequences.1. To determine frequency occult syndrome. 2. analyze clinical implications karyotype sequences.Cross-sectional study 58 (30 45,X; two structural anomalies; 26 mosaic [two whom were 45,X/46,XY]). SRY, TSPY DYZ3 amplified PCR using genomic from peripheral blood.All three found one out 56 whose was not suggestive having patient 45,X/46,Xr(X) ring 45,X/46,XY underwent surgery a dysgerminoma. four had non-virilized female genitalia.Analysis more sensitive detecting than conventional associated We confirmed association at an early age.