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

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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Bibliographic Details
Main Authors: Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern, Peih-Shan Wu, Fang-Tzu Wu, Yen-Ting Pan, Chen-Wen Pan, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2022-11-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
2q12.2→q13 duplication
2q13 duplication
NPHP1 duplication
Prenatal diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S102845592200287X

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http://www.sciencedirect.com/science/article/pii/S102845592200287X

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