Author ORCID Identifier

0000-0002-6403-8548

Date of Graduation

5-2020

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

David Rodriguez-Buritica, M.D.

Committee Member

Syed S. Hashmi, M.D., MPH, Ph.D

Committee Member

Janice L. Smith, Ph.D

Committee Member

Victoria F. Wagner, M.S.

Committee Member

Kathryn Gunther, M.S.

Abstract

Copy number variants (CNVs) are a common finding in the clinical setting and contribute to both genetic variation as well as disease. Recently, studies have described the accumulation of multiple CNVs as a disease modifying mechanism. While it has been characterized how additional CNVs may play a role in phenotype, in which ways and to what extent sex chromosomes are involved has not been fully described. We performed a secondary data analysis using the DECIPHER database on 2,273 de-identified individuals with 2 CNVs. CNVs were designated primary and secondary based on our criteria and characteristics of both CNV groups were described. Further analysis was performed identifying differences in CNVs on the sex chromosomes vs autosomes. We found that CNVs on the sex chromosome have a significant difference compared to autosomes when comparing median size (p=0.013), pathogenicity classifications (p<0.001), and variant classification (p=0.001). We identified chromosome combinations for primary and secondary CNVs, and identified the X chromosome was the most common site for a secondary CNV. Additionally, we observed the plurality of secondary CNVs fell in the same chromosome as the primary CNV. From this study, we can conclude that the X chromosome is the most common site for secondary CNVs in a clinical setting. Identification of chromosome combinations for primary and secondary CNVs is essential in explanation of complex phenotypes and highlights areas of importance of the human genome.

Keywords

copy number variants, CNVs, sex chromosomes, additional CNVs

Available for download on Saturday, May 01, 2021

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