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...

Full description

Bibliographic Details
Main Author: Oliveira, R (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2013
Subjects:
Online Access:http://hdl.handle.net/10400.4/1498
Country:Portugal
Oai:oai:rihuc.huc.min-saude.pt:10400.4/1498