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Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?

BACKGROUND: Copy-neutral absence of heterozygosity (CN-AOH) observed on a single chromosome or part of a chromosome may be indicative of uniparental disomy (UPD) and may require additional testing when such chromosomes or chromosome regions are known to harbor imprinted genes. CASE PRESENTATION: Her...

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Detalles Bibliográficos
Autores principales:	Ortega, Veronica, Louie, Raymond J., Jones, Melanie A., Chaubey, Alka, DuPont, Barbara R., Britt, Allison, Ray, Joseph, McLean, Scott D., Littlejohn, Rebecca O., Velagaleti, Gopalrao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8278679/ https://www.ncbi.nlm.nih.gov/pubmed/34261519 http://dx.doi.org/10.1186/s13039-021-00558-x

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