Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1

• Main Authors: Chih-Ping Chen (Author), Hoi-Kin Yip (Author), Liang-Kai Wang (Author), Schu-Rern Chern (Author), Shin-Wen Chen (Author), Shih-Ting Lai (Author), Peih-Shan Wu (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2017-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. Case report: A 35-year-old, primig...