Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Methods and results: We identified de novo submicroscopic chromosome 14q11.2 deletions in two children with idiopathic developmental delay and cognitive impairment. Vancouver patient 5566 has a ∼200 kb deletion and Vancouver patient 8326 has a ∼1.6 Mb deletion. The Database of Chromosomal Imbalance...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Zahir, Farah, Firth, Helen V, Baross, Agnes, Delaney, Allen D, Eydoux, Patrice, Gibson, William T, Langlois, Sylvie, Martin, Howard, Willatt, Lionel, Marra, Marco A, Friedman, Jan M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597953/
https://ncbi.nlm.nih.gov/pubmed/17545556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.050823
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados