A Case of Tetrasomy 12p Diagnosed Prenatally.

Lee, Kyoung Soon; Lee, So Young; Park, Hee Jeong; An, Hyun Suk; Park, Sook Ja; Han, Jin Yeong

Case Report

Korean Journal of Obstetrics & Gynecology 2004;47(5):1001-1005.
Published online May 1, 2004.

A Case of Tetrasomy 12p Diagnosed Prenatally.

Kyoung Soon Lee, So Young Lee, Hee Jeong Park, Hyun Suk An, Sook Ja Park, Jin Yeong Han

¹Department of Obstetrics and Gynecology, *Department of Laboratory Medicine, Ilsin Christian Hospital, Busan, Korea.
²Department of Laboratory Medicine Dong-A University College of Medicine, Busan, Korea.

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.

Key Words: Tetrasomy 12p, Pallister-Killian syndrome, Mosaicism