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

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...

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Autores principales: Chih-Ping Chen, Schu-Rern Chern, Chien-Hsing Lin, Chin-Yuan Hsu, Hsiang-Yu Lin, Fang-Tzu Wu, Shin-Wen Chen, Wayseen Wang
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Lenguaje:EN
Publicado: Elsevier 2021
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Acceso en línea:https://doaj.org/article/0918f61cc13b4604a9b64c1338470129
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