Incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome

• Main Authors: Chih-Ping Chen (Author), Yeou-Lih Wang (Author), Fang-Tzu Wu (Author), Yen-Ting Pan (Author), Peih-Shan Wu (Author), Chen-Chi Lee (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present incidental detection of familial 8p23.2 microduplication encompassing CSMD1 associated with mosaic 46,XY,t(7;8)(q31.2;p23.1)/46,XY at amniocentesis in a pregnancy with no apparent phenotypic abnormality and a favorable outcome. Case report: A 38-year-old, gravida 2, para 1, phe...