Identification of novel genomic imbalances in Saudi patients with congenital heart disease.

ABSTRACT:

Background

Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have been frequently associated with CHD. Previously, due to limitations of microscope based standard karyotyping techniques copious CNVs and submicroscopic imbalances could not be detected in numerous CHD patients. The aim of our study is to identify cytogenetic abnormalities among the selected CHD cases (n = 17) of the cohort using high density oligo arrays.

Results

Our screening study indicated that six patients (~35%) have various cytogenetic abnormalities. Among the patients, only patient 2 had a duplication whereas the rest carried various deletions. T

SUBMITTER: Al-Hassnan ZN 

PROVIDER: S-EPMC5784682 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature