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이경순 ( Lee Gyeong Sun ),이소영 ( Lee So Yeong ),박희정 ( Park Hui Jeong ),안현숙 ( An Hyeon Sug ),박숙자 ( Park Sug Ja ),한진영 ( Han Jin Yeong ) 대한산부인과학회 2004 Obstetrics & Gynecology Science Vol.47 No.5
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.