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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| 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 |