Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1

Objective: We present prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 2q12.2→q13 encompassing MALL, NPHP1, RGPD6 and BUB1. Case report: A 36-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amnioc...

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Huvudupphov:	Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Wen Pan, Wayseen Wang
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Elsevier 2022-11-01
Serie:	Taiwanese Journal of Obstetrics & Gynecology
Ämnen:	2q12.2→q13 duplication 2q13 duplication NPHP1 duplication Prenatal diagnosis
Länkar:	http://www.sciencedirect.com/science/article/pii/S102845592200287X
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