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

Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications.

Journal of child neurology - 1 Oct 2025

Basarir Gunce, Erdogan Irmak, Ozyilmaz Berk, Gencpinar Pinar, Dundar Nihal Olgac

Abstract excerpt

15q11.2 BP1-BP2 copy number variants involving NIPA1, NIPA2, CYFIP1, and TUBGCP5 genes may not warrant a clinical outcome because of the phenotypic variability and low penetrance. The study aims to provide a greater understanding of the phenotypic diversity associated with these copy number variants. We conducted a retrospective analysis of 37 pediatric patients with deletions or duplications in 15q11.2 BP1-BP2...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 15

Share to DNA Copy Number Variations

Share to Infant

Share to Intellectual Disability

Source

Identifiers

PMID: 40856583
DOI: 10.1177/08830738251366862

Genes

CYFIP1
NIPA1
NIPA2
TUBGCP5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Beyond the Copy Number Differences: The Phenotypic Diversity of Children With 15q11.2 Microdeletions and Microduplications.PMID 40856583Read ↗

Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay.Semantic proximity Read ↗

The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes.Semantic proximity Read ↗

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.Semantic proximity Read ↗

The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 PatientsSemantic proximity Read ↗

The prenatal diagnosis and clinical outcomes of fetuses with 15q11.2 copy number variants: a case series of 36 patientsSemantic proximity Read ↗

Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.Semantic proximity Read ↗

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

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

Unraveling the genomic architecture of supernumerary (iso-) dicentric chromosomes in Dup15q syndrome: Insight from a systematic literature-based studySemantic proximity Read ↗

[Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].Semantic proximity Read ↗

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.Semantic proximity Read ↗

Unraveling the Genomic Architecture of Supernumerary (Iso-)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature-Based Study.Semantic proximity Read ↗

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