The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia

Kuei Fang Lee, Chun Shuo Hsu, Pao Lin Kuo, Jing Liang Chen, Yuan Hong Jiang, Ingrid Y. Liu

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


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.Case presentation: 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.Conclusion: 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.

Original languageEnglish
Article number85
JournalBMC Medical Genetics
Publication statusPublished - 2012 Sept 20

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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