Korean J Obstet Gynecol.  2012 Dec;55(12):958-962. 10.5468/KJOG.2012.55.12.958.

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

• Kim YR
• Park HR
• Jang JH
• Chang SW
• Moon MJ
• Jung SH

• KMID: 2274204
• DOI: http://doi.org/10.5468/KJOG.2012.55.12.958

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.

Keyword

Double aneuploidy; Down syndrome; Klinefelter syndrome; Chorionic villi sampling

MeSH Terms

Abortion, Spontaneous
Aneuploidy
Chorionic Villi Sampling
Chromosomes, Human, Pair 21
Complement System Proteins
Down Syndrome
Female
Humans
Incidence
Klinefelter Syndrome
Mass Screening
Nuchal Translucency Measurement
Phenotype
Pregnancy
Prenatal Diagnosis
Prevalence
Complement System Proteins

Figure

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  Fig. 1 Sonogram at 11+5 weeks gestation showing crown rump length.

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  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.

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  Fig. 4 The photogram of the fetus: the fetus shows grossly thickened of nuchal translucency (open arrow).

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