Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings

BACKGROUND: Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was to determine the prevalence, genetic characteristics and clinical phenotypes of...

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Detalles Bibliográficos
Autores principales: Zhang, Yuanyuan, Liu, Xiaoliang, Gao, Haiming, He, Rong, Chu, Guoming, Zhao, Yanyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411507/
https://www.ncbi.nlm.nih.gov/pubmed/34470638
http://dx.doi.org/10.1186/s12920-021-01065-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411507/
https://www.ncbi.nlm.nih.gov/pubmed/34470638
http://dx.doi.org/10.1186/s12920-021-01065-z

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