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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Detalhes bibliográficos

Principais autores:	Meizi Zhang, Yuehong Liang, Hui Li, Fengqin Xu
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2024-01-01
coleção:	Taiwanese Journal of Obstetrics & Gynecology
Assuntos:	Amniocentesis Maternal uniparental disomy 15 Mosaic trisomy 15 Prader–Willi syndrome
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S1028455923003091
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