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

• Главные авторы: Chih-Ping Chen (Автор), Cheng-Ran Peng (Автор), Schu-Rern Chern (Автор), Yu-Ling Kuo (Автор), Peih-Shan Wu (Автор), Dai-Dyi Town (Автор), Chen-Wen Pan (Автор), Chien-Wen Yang (Автор), Wayseen Wang (Автор)
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• Опубликовано: Elsevier, 2014-12-01T00:00:00Z.
• Предметы: article
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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...