Copy number variations on chromosome 2: impact on human phenotype

• Author(s): Beatriz Oliveira e Sousa
• Date: 2022
• Persistent ID: https://hdl.handle.net/10216/142046
• Origin: Repositório Aberto da Universidade do Porto
• Subject(s): Medicina clínica; Clinical medicine
• Document Type: Master thesis
• Language: English

Description

Copy number variations (CNVs) on chromosome 2 are associated with a variety of human diseases in particular neurodevelopmental disorders, behavioral problems, and skeletal abnormalities. Array comparative genomic hybridization (aCGH) constitute an added value for the diagnosis of these neurodevelopmental or neuropsychiatric diseases. This study aims to stablish a genotype-phenotype correlation, reporting CNVs identified on the chromosome 2, contributing for a better characterization of the molecular significance of rare CNVs in this chromosome. 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 significance, and likely pathogenic or likely benign, in accordance with the American College of Medical Genetics (ACMG) Standards and Guidelines. A total of 2897 patients were studied using aCGH. Among these, 32 CNVs were found on chromosome 2, 24 classified as likely pathogenic and 8 as pathogenic. The genomic intervals with a higher incidence were the 2p25.3 and 2q13 regions. This study will help to established new genotype-phenotype correlations, allowing the update of databases and literature and the improvement of diagnosis and genetic counselling which could be an added value also for prenatal genetic counseling.