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Genetic counseling of prenatally detected familial 15q13.2q13.3 microdeletion encompassing CHRNA7 and OTUD7A with asymptomatic carriers in the family

Objective: A case of prenatal diagnosis of familial 15q13.2q13.3 microdeletion is presented. Case report: A 35-year-old, gravida 2, para 1, woman was referred for genetic counseling because of 15q13.2q13.3 microdeletion in the fetus and the mother. The carrier mother was asymptomatic and normal in p...

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Autors principals: Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2025-03-01
Col·lecció:Taiwanese Journal of Obstetrics & Gynecology
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Accés en línia:http://www.sciencedirect.com/science/article/pii/S1028455925000403
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