The pleiotropic spectrum of proximal 16p11.2 CNVs.

doi:10.1016/j.ajhg.2024.08.015

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Article

The pleiotropic spectrum of proximal 16p11.2 CNVs.

American journal of human genetics - 7 Nov 2024

Auwerx Chiara, Kutalik Zoltán, Reymond Alexandre

Abstract excerpt

Recurrent genomic rearrangements at 16p11.2 BP4-5 represent one of the most common causes of genomic disorders. Originally associated with increased risk for autism spectrum disorder, schizophrenia, and intellectual disability, as well as adiposity and head circumference, these CNVs have since been associated with a plethora of phenotypic alterations, albeit with high variability in expressivity and incomplete...

Topics

Humans
Chromosomes, Human, Pair 16
DNA Copy Number Variations
Intellectual Disability
Phenotype
Genetic Pleiotropy
Autism Spectrum Disorder
Schizophrenia
Chromosome Disorders
Chromosome Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 39332410
DOI: 10.1016/j.ajhg.2024.08.015
PMCID: PMC11568765

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