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17p13.3 quadruplication: a prenatal and postpartum clinical characterization of a copy number variant
Prenatal genetic testing has advanced rapidly in the past decade. However, not all results, including variants, are well understood. We report the finding of a 2.5-Mb gene region quadruplication of Chromosome 17p13.3. This region is well characterized for the deletion leading to Miller–Dieker syndro...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983170/ https://www.ncbi.nlm.nih.gov/pubmed/29858378 http://dx.doi.org/10.1101/mcs.a002196 |