This study was supported by the National Key Technology R&D Program of China (No. 2006BAI05A08) and National Natural Science Foundation of China (No. 30571021).
Pallister-Killian syndrome (PKS) is a rare and sporadic genetic disorder due to tissue-limited mosaicism for supernumerary isochromosome 12p(i(12p)), which is usually absent or at low-level mosaicism in cultured...