Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy

Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy

Objective: To report a prenatal diagnosis of int22h1/int22h2-mediated Xq28 duplication syndrome. Case report: Herein, we present the case of a 28-year-old female who had a previous ambiguous genitalia pregnancy without genetic abnormality that was terminated at 23+2 weeks of gestation. The fetus of...

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Bibliographic Details
Main Authors: Yung Chen Chien, Jia Shing Chen, Yu Ming Shiao, Ching Hua Hsiao
Format: Article
Language:English
Published: Elsevier 2022-05-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
X-linked intellectual disability
Xq28 duplication syndrome
Microduplication
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455922000857

Internet

http://www.sciencedirect.com/science/article/pii/S1028455922000857

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