title: 45,X/46,X,dic(Y)-Mosaicism in the newborn.
abstract: We report on a phenotypically male newborn with 45,X/46,X,dic(Y)-mosaicism. Right-sided inguinal hernia was surgically corrected. Histological examination of the tissue revealed an ambiguously differentiated gonad on this side. The clinical, cytogenetic, and histological results are described and the prognosis and clinical management of these patients are discussed.
authors.affiliation: Pediatric Day-Surgery Center, Cologne, Germany. sbittmann@web.de
authors.forename: S
authors.initials: S
authors.lastname: Bittmann
authors.forename: D
authors.initials: D
authors.lastname: Wieczorek
authors.forename: T
authors.initials: T
authors.lastname: Stallmach
authors.forename: H
authors.initials: H
authors.lastname: Ulus
mesh_terms: D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D011379:Prognosis