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

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

doi:2012.55.12.958

Case Report

Korean Journal of Obstetrics & Gynecology 2012;55(12):958-962.
DOI: https://doi.org/10.5468/KJOG.2012.55.12.958 Published online December 18, 2012.

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

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

Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, Korea. heryjune@naver.com

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.

Key Words: Double aneuploidy, Down syndrome, Klinefelter syndrome, Chorionic villi sampling