Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities

• Главные авторы: Chih-Ping Chen (Автор), Tsang-Ming Ko (Автор), Liang-Kai Wang (Автор), Schu-Rern Chern (Автор), Peih-Shan Wu (Автор), Shin-Wen Chen (Автор), Shih-Ting Lai (Автор), Tzu-Yun Chuang (Автор), Chien-Wen Yang (Автор), Chen-Chi Lee (Автор), Wayseen Wang (Автор)
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• Опубликовано: Elsevier, 2018-02-01T00:00:00Z.
• Предметы: article
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Objective: We present prenatal diagnosis and molecular cytogenetic characterization of 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities. Case report: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of a family...