Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome

• Автори: Chih-Ping Chen (Автор), Schu-Rern Chern (Автор), Chien-Hsing Lin (Автор), Chin-Yuan Hsu (Автор), Hsiang-Yu Lin (Автор), Fang-Tzu Wu (Автор), Shin-Wen Chen (Автор), Wayseen Wang (Автор)
• Формат: Книга
• Опубліковано: Elsevier, 2021-11-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Objective: We present detection of hypermethylation at H19 differentially methylated region (DMR) at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome (BWS). Case report: A 31-year-old, gravida 2, para 1, woman was referred for genetic counseling at 22 weeks...