First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat

• Autors principals: Chih-Ping Chen (Autor), Shun-Long Weng (Autor), Fang-Tzu Wu (Autor), Peih-Shan Wu (Autor), Yen-Ting Pan (Autor), Wen-Lin Chen (Autor), Chien-Wen Yang (Autor), Wayseen Wang (Autor)
• Format: Llibre
• Publicat: Elsevier, 2024-11-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Objective: We present first-trimester application of expanded non-invasive prenatal testing (NIPT) in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat. Case report: A 37-year-old, gravida...