Inv21p12q22del21q22 and intellectual disability

Chromosomal rearrangements are common in humans. Pericentric inversions are among the most frequent aberrations (1-2%). Most inversions are balanced and do not cause problems in carriers unless one of the breakpoints disrupts important functional genes, has near submicroscopic copy number variants o...

ver descrição completa

Detalhes bibliográficos
Autor principal: Oliveira, R (author)
Outros Autores: Dória, S (author), Madureira, C (author), Lima, V (author), Almeida, C (author), Pinho, MJ (author), Ramalho, C (author), Matoso, E (author), Barros, A (author), Carreira, IM (author), Moura, CP (author)
Formato: article
Idioma:eng
Publicado em: 2013
Assuntos:
Texto completo:http://hdl.handle.net/10400.4/1498
País:Portugal
Oai:oai:rihuc.huc.min-saude.pt:10400.4/1498