Author:
Lee Kuei-Fang,Hsu Chun-Shuo,Kuo Pao-Lin,Chen Jing-Liang,Jiang Yuan-Hong,Liu Ingrid Y
Abstract
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.
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.
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Cited by
6 articles.
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1. Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature;Frontiers in Genetics;2022-11-11
2. A Dual Gender Rare Case with 47,XY, + 18/46,XX Karyotype: Chimera or Mosaic?;Journal of Child Science;2021-01
3. Chimerism 47,XY, + 8/46,XX: Follow-up for 11 Years;Journal of Pediatric Genetics;2020-12-07
4. Natural human chimeras: A review;European Journal of Medical Genetics;2020-09
5. A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia;Journal of Human Genetics;2020-04-10