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 journalArticle

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.

Original languageEnglish
Article number85
JournalBMC Medical Genetics
Volume13
DOIs
Publication statusPublished - 2012 Sep 20

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Male Genitalia
Down Syndrome
Fetus
Spermatozoa
Aborted Fetus
Chromosomes, Human, Pair 21
Karyotyping
Sex Chromosomes
Toes
Cell Lineage
Amniotic Fluid
Karyotype
Fertilization
Microsatellite Repeats
Ovum
Autopsy
Mothers

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Lee, Kuei Fang ; Hsu, Chun Shuo ; Kuo, Pao-Lin ; Chen, Jing Liang ; Jiang, Yuan Hong ; Liu, Ingrid Y. / The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia. In: BMC Medical Genetics. 2012 ; Vol. 13.
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The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia. / Lee, Kuei Fang; Hsu, Chun Shuo; Kuo, Pao-Lin; Chen, Jing Liang; Jiang, Yuan Hong; Liu, Ingrid Y.

In: BMC Medical Genetics, Vol. 13, 85, 20.09.2012.

Research output: Contribution to journalArticle

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AU - Lee, Kuei Fang

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AU - Kuo, Pao-Lin

AU - Chen, Jing Liang

AU - Jiang, Yuan Hong

AU - Liu, Ingrid Y.

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