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Kim, Park, Jang, Chang, Moon, and Jung: Prenatal diagnosis of double aneuploidy, 48, XXY, +21 (Down-Klinefelter syndrome)
Case Report
Korean Journal of Obstetrics & Gynecology

Korean Journal of Obstetrics & Gynecology 2012; 55(12): 958-962.

Published online: 18 December 2012

DOI: https://doi.org/10.5468/KJOG.2012.55.12.958

Prenatal diagnosis of double aneuploidy, 48, XXY, +21 (Down-Klinefelter syndrome)

Young-Ran Kim, MD, Hea-Ree Park, MD, Ji Hyon Jang, MD, Sung Woon Chang, MD, Myoung Jin Moon, MD, Sang Hee Jung, MD

Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, Korea.

Corresponding author: Hea-Ree Park, MD. Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, 59 Yatap-ro, Bundang-gu, Seongnam 463-712, Korea. Tel: +82-31-780-5290, Fax: +82-31-780-1976, heryjune@naver.com

Received 24 May 2012       Revised 22 October 2012       Accepted 22 October 2012

Copyright © 2012. Korean Society of Obstetrics and Gynecology

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

The occurrence of double aneuploidy in the same individual is a relatively rare phenomenon and the incidence varies according to the literature. We report an exceptional case of double aneuploidy with an additional chromosome 21 characteristic of Down syndrome and an additional XXY complement characteristic of Klinefelter syndrome. In this woman the first-trimester screening test, nuchal translucency was 3.8 mm. Then early genetic diagnosis by chorionic villi sampling was done. The result was double aneuploidy (48, XXY, +21) and the pregnancy resulted in a spontaneous abortion at 13th weeks of gestation. We report a case of double aneuploidy with a review of the literature of other cases of Down-Klinefelter double aneuploidy to determine the prevalence, phenotype, sonographic findings, and pathogenesis.

Keywords: Double aneuploidy, Down syndrome, Klinefelter syndrome, Chorionic villi sampling

Figures and Tables

Fig. 1
Sonogram at 11+5 weeks gestation showing crown rump length.
kjog-55-958-g001
Fig. 2
Fetal nuchal translucency (NT) thickness 3.8 mm in a midsagittal image (arrow).
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Fig. 3
Karyotype showing 3 copies of chromosome 21, 2 copies of chromosome X, and 1 copy of chromosome Y, indicative of double aneuploidy, 48, XXY, +21. CVS, chorionic villus sampling; NT, nuchal translucency.
kjog-55-958-g003
Fig. 4
The photogram of the fetus: the fetus shows grossly thickened of nuchal translucency (open arrow).
kjog-55-958-g004

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