Prenatal diagnosis of a double trisomy 48, XXY, +13: Klinefelter and Patau syndromes

We report on the prenatal diagnosis of a double aneuploidy involving chromosome X and chromosome 13, in a woman who was referred for CVS. Although non-disjunction is the most common cause of chromosome abnormalities, the presence of two numerical abnormalities in a single conceptus is rarely observed.Here, we report on the first prenatally detected case of Klinefelter and Patau syndromes(48,XXY,+13).