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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Prif Awduron: 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
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Mynediad Ar-lein: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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spelling pubmed-25979532010-09-01 Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children 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 J Med Genet Original Article 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 and Phenotype in Humans using Ensembl Resources (DECIPHER) revealed a third patient with idiopathic developmental delay and cognitive impairment, DECIPHER patient 126, who has a ∼1.1 Mb deletion of 14q11.2. The deletion of patient 5566 overlaps that of patient 126 and both of these deletions lie entirely within that of patient 8326. All three children have similar dysmorphic features, including widely‐spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow of the upper lip, full lower lip and similar auricular anomalies. Conclusion: The minimal common deletion region on chromosome 14q11.2 is only ∼35 kb (from 20.897 to 20.932, University of California at Santa Cruz (UCSC) Genome Browser; build hg18, March 2006) and includes only two genes, SUPT16H and CHD8, which are good candidate genes for the phenotypes. The non‐recurrent breakpoints of these patients, the presence of normal copy number variants in the region and the local genomic structure support the notion that this region has reduced stability. BMJ Group 2007-09 2007-06-01 /pmc/articles/PMC2597953/ /pubmed/17545556 http://dx.doi.org/10.1136/jmg.2007.050823 Text en Copyright © 2007 BMJ Publishing Group Ltd
institution US National Library of Medicine
collection PubMed Central
language English
format Article
topic Original Article
spellingShingle Original Article
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
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
description 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 and Phenotype in Humans using Ensembl Resources (DECIPHER) revealed a third patient with idiopathic developmental delay and cognitive impairment, DECIPHER patient 126, who has a ∼1.1 Mb deletion of 14q11.2. The deletion of patient 5566 overlaps that of patient 126 and both of these deletions lie entirely within that of patient 8326. All three children have similar dysmorphic features, including widely‐spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow of the upper lip, full lower lip and similar auricular anomalies. Conclusion: The minimal common deletion region on chromosome 14q11.2 is only ∼35 kb (from 20.897 to 20.932, University of California at Santa Cruz (UCSC) Genome Browser; build hg18, March 2006) and includes only two genes, SUPT16H and CHD8, which are good candidate genes for the phenotypes. The non‐recurrent breakpoints of these patients, the presence of normal copy number variants in the region and the local genomic structure support the notion that this region has reduced stability.
author 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
author_facet 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
author_sort Zahir, Farah
title Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
title_short Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
title_full Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
title_fullStr Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
title_full_unstemmed Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
title_sort novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
publisher BMJ Group
publisher_facet BMJ Group
publishDate 2007
url 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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