Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome

Rare autosomal trisomies (RATs) other than common aneuploidies can be detected using noninvasive prenatal testing (NIPT). However, conventional karyotyping is insufficient for evaluating diploid fetuses with uniparental disomy (UPD) due to trisomy rescue. Using the diagnostic process for Prader–Will...

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Detalles Bibliográficos
Autores principales: Hong, Da Kyung, Park, Ji Eun, Kang, Kyung Min, Shim, Sung Han, Shim, So Hyun, Han, You Jung, Cho, Hee Young, Cha, Dong Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9955094/
https://www.ncbi.nlm.nih.gov/pubmed/36832068
http://dx.doi.org/10.3390/diagnostics13040580

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9955094/
https://www.ncbi.nlm.nih.gov/pubmed/36832068
http://dx.doi.org/10.3390/diagnostics13040580

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