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Translocation trisomy 21 in CVS not found in embryoblast: Three different cell lines in CVS, amnion‐ and placental culture

Chorionic villus samples from a healthy pregnant female were obtained for first‐trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY,+mar was found.