title: The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia.
abstract: BACKGROUND
  Approximately 30 sex-chromosome discordant chimera cases have been reported to date, of which only four cases carried trisomy 21. Here, we present an additional case, an aborted fetus with a karyotype of 47,XX, +21/46,XY.
  
  
  METHODS
  Autopsy demonstrated that this fetus was normally developed and had male genitalia. Major characteristics of Down syndrome were not observed except an enlarged gap between the first and second toes. Karyotyping of tissues cultured from the fetus revealed the same chimeric chromosomal composition detected in the amniotic fluid but with a different ratio of [47,XX,+21] to [46,XY]. Further short tandem repeat analysis indicated a double paternal contribution and single maternal contribution to the fetus, with the additional chromosome 21 in the [47,XX,+21] cell lineage originating from the paternal side.
  
  
  CONCLUSIONS
  We thus propose that this chimeric fetus was formed via the dispermic fertilization of a parthenogenetic ovum with one (Y) sperm and one (X,+21) sperm.
authors.affiliation: Laboratory for Cytogenetics, Center for Genetic Counseling, Buddhist Tzu Chi General Hospital, Hualien, Taiwan.
authors.forename: Kuei-Fang
authors.initials: KF
authors.lastname: Lee
authors.forename: Chun-Shuo
authors.initials: CS
authors.lastname: Hsu
authors.forename: Pao-Lin
authors.initials: PL
authors.lastname: Kuo
authors.forename: Jing-Liang
authors.initials: JL
authors.lastname: Chen
authors.forename: Yuan-Hong
authors.initials: YH
authors.lastname: Jiang
authors.forename: Ingrid Y
authors.initials: IY
authors.lastname: Liu
mesh_terms: D002678:Chimera; D025063:Chromosome Disorders / Q000235:genetics; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D004314:Down Syndrome / Q000235:genetics; D005333:Fetus; D005837:Genitalia, Male; D006801:Humans; D008297:Male