De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication

BACKGROUND: Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad spectrum of phenotypes that include an increased risk of birth defects, developme...

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Detalles Bibliográficos
Autores principales: Azad, Abul Kalam, Yanakakis, Lindsay, Issleb, Samantha, Turina, Jessica, Drabik, Kelli, Bonner, Christina, Simi, Eve, Wagner, Andrew, Fiddler, Morry, Naeem, Rizwan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488852/
https://www.ncbi.nlm.nih.gov/pubmed/32944080
http://dx.doi.org/10.1186/s13039-020-00513-2

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