Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

A de novo interstitial deletion of 15q11-q13 is the major cause of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Here we describe two unrelated PWS patients with a typical deletion, whose fathers have a balanced translocation involving the PWS/AS region. Microsatellite data suggest that th...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Horsthemke, B, Maat-Kievit, A, Sleegers, E, van den Ouweland, A, Buiting, K, Lich, C, Mollevanger, P, Beverstock, G, Gillessen-Kaesbach, G, Schwanitz, G
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050765/
https://ncbi.nlm.nih.gov/pubmed/8933339
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares