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

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.

Genes - 1 Jul 2021

Budisteanu Magdalena, Papuc Sorina Mihaela, Streata Ioana, Cucu Mihai, Pirvu Andrei, Serban-Sosoi Simona, Erbescu Alina, Andrei Emanuela, Iliescu Catrinel, Ioana Doina, Severin Emilia, Ioana Mihai, Arghir Aurora

Abstract excerpt

Chromosome 15q13.3 microduplications are associated with a wide spectrum of clinical presentations ranging from normal to different neuropsychiatric conditions, such as developmental delay (DD), intellectual disability (ID), epilepsy, hypotonia, autism spectrum disorders (ASD), attention-deficit hyperactivity disorder, and schizophrenia. The smallest region of overlap for 15q13.3 duplications encompasses the...

Read the complete abstract on PubMed

Topics

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

Share to alpha7 Nicotinic Acetylcholine Receptor
Share to Attention Deficit Disorder with Hyperactivity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Autism Spectrum Disorder

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 15

Share to Microarray Analysis

Share to Muscle Hypotonia

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 34356041
DOI: 10.3390/genes12071025
PMCID: PMC8306426

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.PMID 34356041Read ↗

Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.Semantic proximity Read ↗

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.Semantic proximity Read ↗

Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7.Semantic proximity Read ↗

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.Semantic proximity Read ↗

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.Semantic proximity Read ↗

Duplication Versus Deletion Through the Lens of 15q13.3: Clinical and Research Implications of Studying Copy Number Variants Associated with Neuropsychiatric Disorders in Induced Pluripotent Stem Cell-Derived Neurons.Semantic proximity Read ↗

Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases.Semantic proximity Read ↗

A case of 15q11-q13 duplication syndrome and literature review.Semantic proximity Read ↗

Delineation of 15q13.3 microdeletions.Semantic proximity Read ↗

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.Semantic proximity Read ↗

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.Semantic proximity Read ↗

Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.Semantic proximity Read ↗

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