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

BMC Medical Genetics

Ingrid Y Liu⁴  Yuan-Hong Jiang¹  Jing-Liang Chen¹  Pao-Lin Kuo³  Chun-Shuo Hsu⁵  Kuei-Fang Lee² 

[1] Department of Urology, Buddhist Tzu Chi General Hospital, 707, Sec 3, Chunyang Rd, Hualien County, 970, Taiwan;Graduate Institute of Medical Sciences, Tzu Chi University, Hualien County, 970, Taiwan;Department of Medical Laboratory Science and Biotechnology, National Cheng Kung University, 1, University Road, Tainan City, 701, Taiwan;Department of Molecular Biology and Human Genetics, Tzu Chi University, 701, Sec 3, Chunyang Rd, Hualien, 970, Taiwan;Department of Obstetrics & Gynecology, Buddhist Tzu Chi General Hospital, Dalin Branch, Chiayi County, 622, Taiwan

关键词: Karyotype;    Genitalia;    Fetus;    Sex chromosome;    Trisomy 21;    Chimerism;   

Others  :  1177797
DOI  :  10.1186/1471-2350-13-85

 received in 2012-04-12, accepted in 2012-09-13,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Lee et al.; licensee BioMed Central Ltd.

【 图 表 】

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