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

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

Paternal Isodisomy for Chromosome 5 in a Child with Spinal Muscular Atrophy

von Brzustowicz, L. M., Allitto, B. A., Matseoane, D., Theve, R., Michaud, L., Chatkupt, S., Sugarman, E., Penchaszadeh, G. K., Suslak, L., Koenigsberger, M. R., Gilliam, T. C., Handelin, B. L.
Veröffentlicht 1994