Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

Por Wischmeijer, A., Magini, P., Giorda, R., Gnoli, M., Ciccone, R., Cecconi, I., Franzoni, E., Mazzanti, L., Romeo, G., Zuffardi, O., Seri, M.
Publicado em 2011

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Por Robinson, W P, Wagstaff, J, Bernasconi, F, Baccichetti, C, Artifoni, L, Franzoni, E, Suslak, L, Shih, L Y, Aviv, H, Schinzel, A A
Publicado em 1993