A Case of Tetrasomy 12p Diagnosed Prenatally / 대한산부인과학회잡지

ABSTRACT

Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following karyotyping for maternal age and other causes. In this syndrome the chromosome abnormalities, isochromosome is present in amniocyte with a much greater percentage than fetal lymphocyte. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. We report a case identified by prenatal karyotyping diagnosis.