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

Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.

American journal of medical genetics. Part A - 1 Dec 2015

Quintela Ines, Barros Francisco, Fernandez-Prieto Montse, Martinez-Regueiro Rocio, Castro-Gago Manuel, Carracedo Angel, Gomez-Lado Carmen, Eiris Jesus

Abstract excerpt

The few proximal 4q chromosomal aberrations identified in patients with neurodevelopmental phenotypes that have been published to date are variable in type, size and breakpoints and, therefore, encompass different chromosome bands and genes, making the establishment of genotype-phenotype correlations a challenging task. Here, microarray-based copy number analysis allowed us the detection of two novel and...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Family

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

Share to Mental Disorders

Share to Ubiquitin-Activating Enzymes

Source

Identifiers

PMID: 26284580
DOI: 10.1002/ajmg.a.37291

Genes

UBA6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.PMID 26284580Read ↗

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

A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.Semantic proximity Read ↗

8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.Semantic proximity Read ↗

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.Semantic proximity Read ↗

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.Semantic proximity Read ↗

A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.Semantic proximity Read ↗

Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.Semantic proximity Read ↗

5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.Semantic proximity Read ↗

Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.Semantic proximity Read ↗

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.Semantic proximity Read ↗

Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches.Semantic proximity Read ↗

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.Semantic proximity Read ↗

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