22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.

ABSTRACT:

Introduction

Congenital heart disease (CHD) is the most common type of congenital defect reported to be one of the leading causes of mortality in the first year of life. Microdeletion and microduplication syndromes (MMS) are associated with cardiac malformations. Understanding which genetic factors are involved in these conditions directly impacts treatment decisions. We aimed to identify the occurrence of genetic alterations and their association with MMS in CHD pediatric patients evaluated in a reference service of Southern Brazil.

Methods

Participants were recruited during 2010 in the intensive care unit of a pediatric hospital. MMs and regions of chromosome 22 were screened by SALSA MLPA Probemix P245 Microdeletion Syndromes-1A kit for detection of copy number variations

SUBMITTER: Floriani MA 

PROVIDER: S-EPMC9911999 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature