Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion

Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion

Objective: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. Materials and Methods: A 22-year-old woman underwent amniocentesis at 17 weeks of ges...

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Bibliographic Details
Main Authors: Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2016-10-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
hypotrophic heart
short stature
Xp22.32→pter deletion
Xq26.3→qter duplication
Yp11.31→pter deletion
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455916301346

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http://www.sciencedirect.com/science/article/pii/S1028455916301346

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