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Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype

Uniparental disomy (UPD) is a specific type of chromosomal variant that has been detected in both prenatal diagnosis and neonates with advances in molecular genetic testing technologies [mainly chromosome microarray analysis (CMA) technologies containing single-nucleotide polymorphism (SNP) probes]....

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Detalles Bibliográficos
Autores principales: Zhang, Xu, Liu, Li, Liu, Yang, Pan, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8569901/
https://www.ncbi.nlm.nih.gov/pubmed/34746057
http://dx.doi.org/10.3389/fped.2021.732645

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