Korean J Obstet Gynecol KJOG Korean Journal of Obstetrics & Gynecology 2233-5188 2233-5196 Korean Society of Obstetrics and Gynecology 10.5468/KJOG.2012.55.12.958 Case Report Prenatal diagnosis of double aneuploidy, 48, XXY, +21 (Down-Klinefelter syndrome) Kim Young-Ran MD Park Hea-Ree MD Jang Ji Hyon MD Chang Sung Woon MD Moon Myoung Jin MD Jung Sang Hee 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 12 2012 18 12 2012 55 12 958 962 24 05 2012 22 10 2012 22 10 2012 Copyright © 2012. Korean Society of Obstetrics and Gynecology 2012

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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.

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Sonogram at 11+5 weeks gestation showing crown rump length.

Fetal nuchal translucency (NT) thickness 3.8 mm in a midsagittal image (arrow).

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.

The photogram of the fetus: the fetus shows grossly thickened of nuchal translucency (open arrow).