Use of the MS-MLPA assay in prenatal diagnosis of Prader–Willi syndrome with mosaic trisomy 15
Objective: We present a prenatal diagnosis strategy of using Methylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA) for the detection of maternal uniparental disomy 15/trisomy 15 (UPD(15) mat/T15) mosaicism. Case report: A 43-year-old woman underwent amniocentesis at 19 week...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2024-01-01
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| Serie: | Taiwanese Journal of Obstetrics & Gynecology |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S1028455923003091 |
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