Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

The lack of normally active paternal genes in 15q11-q13, as an outcome of either a paternal deletion or maternal disomy, accounts for >95% of all patients with Prader-Willi syndrome. Other mechanisms, including imprinting mutations and unbalanced translocations involving pat 15q11-q13, have been...

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Detalhes bibliográficos
Main Authors: Conroy, J M, Grebe, T A, Becker, L A, Tsuchiya, K, Nicholls, R D, Buiting, K, Horsthemke, B, Cassidy, S B, Schwartz, S
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715912/
https://ncbi.nlm.nih.gov/pubmed/9311744
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