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Detection of an Underlying 22q11.2 Duplication in a Female Neonate With Trisomy 18
Current guidelines indicate that in patients with developmental disabilities or congenital anomalies, chromosomal microarray (CMA) is a first-tier diagnostic test. However, for patients with obvious chromosomal syndromes such as trisomy 13, 18, and 21, G-banded karyotyping is still recommended over...
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| Publicado no: | Lab Med |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5907902/ https://ncbi.nlm.nih.gov/pubmed/29036626 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/labmed/lmx039 |
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