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

A patient with Angelman syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q11: q11-->pter) karyotype and a patient with Prader-Willi syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q12: q12-->pter) karyotype were investigated with molecular markers along chromosome 15. Paternal uniparental i...

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Autores principales: Robinson, W P, Wagstaff, J, Bernasconi, F, Baccichetti, C, Artifoni, L, Franzoni, E, Suslak, L, Shih, L Y, Aviv, H, Schinzel, A A
Formato: Artigo
Lenguaje:Inglês
Publicado: 1993
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016533/
https://ncbi.nlm.nih.gov/pubmed/8411071
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