title: Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report.
abstract: BACKGROUND
  45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications.
  
  
  METHODS
  The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line between these two tissues. The presence of the sex-determining region Y (SRY) gene did not determine male differentiation, which meant in the present case that the predominance of the X cell line in the gonadal tissue was probably due to the determining factor for female sexual differentiation.
authors.affiliation: Hospital de São João, Faculdade de Medicina, Universidade do Porto, Porto, Portugal. hecsoares@europe.com
authors.forename: Henrique
authors.initials: H
authors.lastname: Soares
authors.forename: Ana
authors.initials: A
authors.lastname: Maia
authors.forename: Miguel
authors.initials: M
authors.lastname: Campos
authors.forename: Sofia
authors.initials: S
authors.lastname: Dória
authors.forename: José Manuel
authors.initials: JM
authors.lastname: Lopes
authors.forename: Manuel
authors.initials: M
authors.lastname: Fontoura
mesh_terms: D002675:Child, Preschool; D005260:Female; D018238:Gonadoblastoma / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007668:Kidney / Q000002:abnormalities; D009030:Mosaicism; D010051:Ovarian Neoplasms / Q000235:genetics; D010641:Phenotype; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*