Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype

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

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Detalles Bibliográficos
Autores principales: Song, Jieping, Jiang, Wei, Zhang, Chengcheng, Wang, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9164483/
https://www.ncbi.nlm.nih.gov/pubmed/35659699
http://dx.doi.org/10.1186/s13039-022-00598-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9164483/
https://www.ncbi.nlm.nih.gov/pubmed/35659699
http://dx.doi.org/10.1186/s13039-022-00598-x

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