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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909946/
https://www.ncbi.nlm.nih.gov/pubmed/20618949
http://dx.doi.org/10.1186/1755-8166-3-13

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909946/
https://www.ncbi.nlm.nih.gov/pubmed/20618949
http://dx.doi.org/10.1186/1755-8166-3-13

Ejemplares similares