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

BMC Medical Genetics

Case Report

Pao-Lin Kuo¹  Ingrid Y Liu²  Chun-Shuo Hsu³  Jing-Liang Chen⁴  Yuan-Hong Jiang⁴  Kuei-Fang Lee⁵ 

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

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

DOI  :  10.1186/1471-2350-13-85

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

来源: Springer

【 摘 要 】

BackgroundApproximately 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 presentationAutopsy 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.ConclusionWe 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】

Unknown   
© Lee et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.