Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of medical genetics - 1 Sept 2007

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

Abstract excerpt

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 approximately 200 kb deletion and Vancouver patient 8326 has a approximately 1.6 Mb deletion. The Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER) revealed a third patient with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 14
Share to Cognition Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Ear, External

Share to Gene Dosage

Share to Heart Defects, Congenital

Share to Muscle Hypotonia

Source

Open in PubMed Open full text

Identifiers

PMID: 17545556
DOI: 10.1136/jmg.2007.050823
PMCID: PMC2597953

Genes

CHD8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.PMID 17545556Read ↗

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphismSemantic proximity Read ↗

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsSemantic proximity Read ↗

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.Semantic proximity Read ↗

Refining analyses of copy number variation identifies specific genes associated with developmental delay.Semantic proximity Read ↗

De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.Semantic proximity Read ↗

Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohortSemantic proximity Read ↗

Developmental trajectories in 22q11.2 deletion syndromeSemantic proximity Read ↗

Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.Semantic proximity Read ↗

Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Semantic proximity Read ↗

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.Semantic proximity Read ↗

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features.Semantic proximity Read ↗

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.