Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
Abstract Background 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two...
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| Auteurs principaux: | , , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMC
2020-07-01
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| Collection: | Molecular Cytogenetics |
| Sujets: | |
| Accès en ligne: | http://link.springer.com/article/10.1186/s13039-020-00498-y |
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