Sonographic and Cytogenetic Aspects of the Prenatal Diagnosis of Mosaic Tetrasomy 12p (Pallister-Killian Syndrome): A Case Report and Review of the Literature

Abstract

We report here the first case of Pallister-Killian Syndrome (PKS, tetrasomy 12p) diagnosed antenatally by cordocentesis, occurring in a fetus with a congenital diaphragmatic hernia. The 32 cases of karyotypically confirmed PKS reported since the initial descriptions are reviewed, and cytogenetic and sonographic aspects of the prenatal diagnosis of PKS are discussed.

Key Words:

• Cordocentesis
• Mosaicism
• Diaphragmatic hernia