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Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review
BACKGROUND: PWS is challenging to diagnose prenatally due to a lack of precise and well‐characterized fetal phenotypes and noninvasive markers. Here we present the case of prenatal diagnosis of Prader‐Willi syndrome, which was suspected with whole‐genome NIPS. METHODS: Whole‐genome noninvasive prena...
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| Pubblicato in: | Mol Genet Genomic Med |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7549559/ https://ncbi.nlm.nih.gov/pubmed/32857485 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1448 |
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