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

研究成果: Article同行評審

4 引文 斯高帕斯(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.

期刊BMC Medical Genetics
出版狀態Published - 2012 9月 20

All Science Journal Classification (ASJC) codes

  • 遺傳學
  • 遺傳學(臨床)


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