Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome

• Main Authors: Chih-Ping Chen (Author), Cheng-Ran Peng (Author), Schu-Rern Chern (Author), Yu-Ling Kuo (Author), Peih-Shan Wu (Author), Dai-Dyi Town (Author), Chen-Wen Pan (Author), Chien-Wen Yang (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2014-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: This study aims to present molecular cytogenetic characterization of Pallister-Killian syndrome (PKS). Materials and methods: A 37-year-old woman underwent amniocentesis at 18 weeks of gestation. Amniocentesis revealed a karyotype of 47,XY,+i(12)(p10)[6]/48,XY,+i(12)(p10)×2[1]/46,XY[6]. R...