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

• المؤلفون الرئيسيون: Chih-Ping Chen (مؤلف), Yeou-Lih Wang (مؤلف), Fang-Tzu Wu (مؤلف), Yen-Ting Pan (مؤلف), Peih-Shan Wu (مؤلف), Chen-Chi Lee (مؤلف), Wayseen Wang (مؤلف)
• التنسيق: كتاب
• منشور في: Elsevier, 2024-03-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: 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...