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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer
2022-04-01
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Series: | Medicine |
Online Access: | http://journals.lww.com/10.1097/MD.0000000000029222 |