title: [Mosaicism 45,X/46,X,r/(Y) associated with mixed gonadal dysgenesis. Description of a case and review of the literature].
abstract: The structural anomalies of Y chromosome even if rare, are very interesting for the possibility of mapping male-determining genes. The authors report a case of ring (Y) chromosome to further elucidate the phenotype associated with a deleted Y chromosome and to present informations about the location of genes on the Y chromosome. The literature's cases are also reviewed and compared to Author's.
authors.affiliation: V Clinica Pediatrica dell'Università La Sapienza di Roma, Italia.
authors.forename: L
authors.initials: L
authors.lastname: Bruni
authors.forename: S
authors.initials: S
authors.lastname: Gregory
authors.forename: R
authors.initials: R
authors.lastname: Boldrini
authors.forename: V
authors.initials: V
authors.lastname: Brinchi
authors.forename: E
authors.initials: E
authors.lastname: Ferrante
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D006059:Gonadal Dysgenesis / Q000601:surgery; D006060:Gonadal Dysgenesis, Mixed / Q000601:surgery; D006801:Humans; D008297:Male; D009030:Mosaicism; D012303:Ring Chromosomes
vernacular_title: Mosaicismo 45,X/46,X,r(Y) associato a disgenesia gonadica mista. Descrizione di un caso e rassegna della letteratura.