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Article

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.

Genes - 10 Aug 2024

Mitrakos Anastasios K, Kosma Konstantina, Makrythanasis Periklis, Tzetis Maria

Abstract excerpt

The human 16p11.2 chromosomal region is rich in segmental duplications which mediate the formation of recurrent CNVs. CNVs affecting the 16p11.2 region are associated with an increased risk for developing neuropsychiatric disorders, including autism spectrum disorder (ASD), schizophrenia, and intellectual disability (ID), as well as abnormal body weight and head circumference and dysmorphic features, with marked...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39202413
DOI: 10.3390/genes15081053
PMCID: PMC11354020

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