De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis

Reported cases of “pure” duplication of the entire short arm of chromosome 16 (16p) are rare, with only 7 patients described in the literature. We report on a female infant with de novo 16p duplication localized to the short arm of chromosome 6, detected by chromosomal analysis and characterized by...

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Detalles Bibliográficos
Autores principales: Schwaibold, Eva Maria Christina, Bartels, Iris, Küster, Helmut, Lorenz, Michael, Burfeind, Peter, Adam, Ronja, Zoll, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905920/
https://www.ncbi.nlm.nih.gov/pubmed/24456940
http://dx.doi.org/10.1186/1755-8166-7-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3905920/
https://www.ncbi.nlm.nih.gov/pubmed/24456940
http://dx.doi.org/10.1186/1755-8166-7-7

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