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Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family
BACKGROUND: Copy number variants are a substantial source of pathogenic or normal genome variations. Chromosomal imbalances of several megabasepair are normally harmful for the affected person. Still, rarely reported are so-called “unbalanced chromosome abnormalities” (UBCAs), which are either losse...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9434864/ https://www.ncbi.nlm.nih.gov/pubmed/36050713 http://dx.doi.org/10.1186/s13039-022-00617-x |