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...

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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
Format: Artigo
Language:Inglês
Published: BMJ Group 2007
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Original Article
Online Access: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
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