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

American journal of medical genetics. Part A - 1 Dec 2025

Burkart Sebastian, Ries Markus, Romero Verena, Burau Karin, Schaaf Christian P, Hempel Maja

Abstract excerpt

Chromosomal aberrations, particularly copy-number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy-number gains (CN gains) in 15q11-q13, primarily consisting of a pseudo (iso-)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most frequent CNVs in NDD. The associated Dup15q syndrome is an early onset...

Topics

Humans
Chromosomes, Human, Pair 15
DNA Copy Number Variations
Chromosome Aberrations
Intellectual Disability
Phenotype
Chromosome Duplication
Genomics
Chromosome Disorders
Neurodevelopmental Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Association Studies

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PMID: 40650411
DOI: 10.1002/ajmg.a.64186

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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