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

• Main Authors: Hsiu-Huei Peng (Author), Chung Jen Yu (Author), Yi Chi Chen (Author), Chin-Chieh Hsu (Author), Shuenn-Dyh Chang (Author), Ho-Yen Chueh (Author), Yao-Lung Chang (Author), Po-Jen Cheng (Author), Yen-Chang Lee (Author)
• Format: Book
• Published: Elsevier, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...