Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

BACKGROUND: Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal c...

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Detalhes bibliográficos
Main Authors: van der Veken, Lars T, Dieleman, Marianne MJ, Douben, Hannie, van de Brug, Judith C, van de Graaf, Raoul, Hoogeboom, A Jeannette M, Poddighe, Pino J, de Klein, Annelies
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2909946/
https://ncbi.nlm.nih.gov/pubmed/20618949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-3-13
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