title: Prenatal diagnosis of 46,XY/46,XX mosaicism: a case report.
abstract: We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism.
authors.affiliation: Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan 48201, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Yaron
authors.forename: B
authors.initials: B
authors.lastname: Feldman
authors.forename: R L
authors.initials: RL
authors.lastname: Kramer
authors.forename: S B
authors.initials: SB
authors.lastname: Kasperski
authors.forename: T
authors.initials: T
authors.lastname: Vo
authors.forename: G L
authors.initials: GL
authors.lastname: Feldman
authors.forename: M P
authors.initials: MP
authors.lastname: Johnson
authors.forename: M I
authors.initials: MI
authors.lastname: Evans
authors.forename: S A
authors.initials: SA
authors.lastname: Ebrahim
mesh_terms: D000483:Alleles; D001055:Apolipoproteins B / Q000235:genetics; D002678:Chimera / Q000235:genetics; D005333:Fetus / Q000378:metabolism; D006801:Humans; D008297:Male; D008540:Meiosis / Q000235:genetics; D018598:Minisatellite Repeats / Q000235:genetics; D008938:Mitosis / Q000235:genetics; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D012727:Sex Characteristics; D012730:Sex Chromosomes / Q000235:genetics*
chemical_list: D001055:Apolipoproteins B