Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias.

ABSTRACT: Hypospadias is a common form of congenital atypical sex development that is often associated with other congenital comorbidities. Many genes have been associated with the condition, most commonly single sequence variations. Further investigations of recurrent and overlapping copy number variations (CNVs) have resulted in the identification of genes and chromosome regions associated with various conditions, including differences of sex development (DSD). In this retrospective study, we investigated the DECIPHER database, as well as an internal institutional database, to identify small recurrent CNVs among individuals with isolated and syndromic hypospadias. We further investigated these overlapping recurrent CNVs to identify 75 smallest regions of overlap (SROs) on 18 chromosomes. Some of t

SUBMITTER: Scott CH 

PROVIDER: S-EPMC9027593 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature