Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study.

ABSTRACT:

Background

Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases particularly neurodevelopmental disorders. Array comparative genomic hybridization (aCGH) constitutes an added value for the diagnosis of neurodevelopmental or neuropsychiatric diseases. This study aims to establish a genotype-phenotype correlation, reporting CNVs on the chromosome 2, contributing for a better characterization of the molecular significance of rare CNVs in this chromosome.

Methods

To accomplish this, a cross-sectional study was performed using genetic information included in a database of the Department of Genetics of the Faculty of Medicine and clinical data from Hospital database. CNVs were classified as pathogenic, benign, variants of unknown significan

SUBMITTER: Sousa B 

PROVIDER: S-EPMC10194716 | biostudies-literature | 2023 Jan-Feb

REPOSITORIES: biostudies-literature