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

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

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

по 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.
Опубликовано 1994