Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

The underlying causes of learning disability and dysmorphic features in many patients remain unidentified despite extensive investigation. Routine karyotype analysis is not sensitive enough to detect subtle chromosome rearrangements (less than 5 Mb). The presence of subtle DNA copy number changes wa...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Shaw-Smith, C, Redon, R, Rickman, L, Rio, M, Willatt, L, Fiegler, H, Firth, H, Sanlaville, D, Winter, R, Colleaux, L, Bobrow, M, Carter, N
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2004
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735726/
https://ncbi.nlm.nih.gov/pubmed/15060094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2003.017731
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados