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Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman
BACKGROUND: The 18p terminal deletion with inverted duplication is an extremely rare chromosome structure abnormality and the common clinical manifestations include intellectual disability and speech delay, etc. Up to now, only three confirmed cases were reported in Europe, and here, for the first t...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732341/ https://www.ncbi.nlm.nih.gov/pubmed/31317671 http://dx.doi.org/10.1002/mgg3.868 |