Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review

RATIONALE: Chromosome microdeletions within 7q11.23 can result in Williams-Beuren syndrome which is a rare autosomal dominant disorder. Williams-Beuren syndrome is usually associated with developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. PATIENT...

Descripción completa

Detalles Bibliográficos
Autores principales: Lv, Xin, Yang, Xiao, Li, Linlin, Yue, Fagui, Zhang, Hongguo, Wang, Ruixue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615468/
https://www.ncbi.nlm.nih.gov/pubmed/37904428
http://dx.doi.org/10.1097/MD.0000000000034852

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615468/
https://www.ncbi.nlm.nih.gov/pubmed/37904428
http://dx.doi.org/10.1097/MD.0000000000034852

Ejemplares similares