Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family

BACKGROUND: Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally clinically affected. Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs and UBCA identified i...

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Detalles Bibliográficos
Autores principales: Zhang, Ying, Chen, Juan, Feng, Zonghui, Li, Wencheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380353/
https://www.ncbi.nlm.nih.gov/pubmed/35971114
http://dx.doi.org/10.1186/s13039-022-00614-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9380353/
https://www.ncbi.nlm.nih.gov/pubmed/35971114
http://dx.doi.org/10.1186/s13039-022-00614-0

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