Prenatal diagnosis of Simpson-Golabi-Behmel syndrome type 1 with an 814 kb Xq26.2 deletion with the initial presentation of a thick nuchal fold

• Autors principals: Hsiu-Huei Peng (Autor), Chung Jen Yu (Autor), Yi Chi Chen (Autor), Chin-Chieh Hsu (Autor), Shuenn-Dyh Chang (Autor), Ho-Yen Chueh (Autor), Yao-Lung Chang (Autor), Po-Jen Cheng (Autor), Yen-Chang Lee (Autor)
• Format: Llibre
• Publicat: Elsevier, 2023-01-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Objective: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by overgrowth and multiple anomalies. Most clinical diagnoses of SGBS1 are made postnatally. We present the case of a pregnant woman in whom the fetus presented with a thick nuchal fold 5.6 m...