A prenatal case of Simpson-Golabi-Behmel syndrome type 1 with a 0.26-Mb deletion fragment at Xq26.2 inherited from mother

Abstract. Rationale:. The purpose of this report was to explore how to manage the fetus of Simpson-Golabi-Behmel syndrome type 1 (SGBS1) and to provide a definite diagnosis to guide the following genetic counseling for the pregnancy. Patient concerns:. A 24-year-old women, gravida 1, para 0, was 172...

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Bibliographic Details
Main Authors: Jing Sha, MD, Fangfang Tan, MD, Ying Liu, BA, Zaochun Xu, BA, Xuezhen Wang, MD, Jingfang Zhai, MD, Maya Saranathan.
Format: Article
Language:English
Published: Wolters Kluwer 2022-04-01
Series:Medicine
Online Access:http://journals.lww.com/10.1097/MD.0000000000029222