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

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 cm tall wit...

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Detalles Bibliográficos
Autores principales: Sha, Jing, Tan, Fangfang, Liu, Ying, Xu, Zaochun, Wang, Xuezhen, Zhai, Jingfang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9276221/
https://www.ncbi.nlm.nih.gov/pubmed/35482990
http://dx.doi.org/10.1097/MD.0000000000029222

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9276221/
https://www.ncbi.nlm.nih.gov/pubmed/35482990
http://dx.doi.org/10.1097/MD.0000000000029222

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