The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD)
continues to be a challenge. Although CNVs including genes can confer disease risk …

Congenital heart disease (CHD) is the most common class of major malformations in
humans. The historical association with large chromosomal abnormalities foreshadowed the …

The heart is the first functional organ to form during vertebrate development. Congenital
heart defects are the most common type of human birth defect, many originating as …

The genetic mechanisms underlying congenital heart disease (CHD) are complex and
remain incompletely understood. The majority of patients with CHD have an isolated heart …

Congenital heart disease (CHD) is the most common birth defect and brings with it
significant mortality and morbidity. The application of exome and genome sequencing has …

Background Our study was aimed to explore the clinical implication of chromosome
microarray analysis (CMA) in genetically etiological diagnosis of children with congenital …

OBJECTIVES: To investigate different aspects of the introduction of array comparative
genomic hybridization (aCGH) in clinical practice. STUDY DESIGN: A total 150 patients with …

Abstract Chromosomal band 1q21. 1 can be divided into two distinct regions, proximal and
distal, based on segmental duplications that mediate recurrent rearrangements …

Objectives To assess the frequency of karyotype abnormalities and chromosome 22q11. 2
deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to …

We conducted a genome-wide association study to search for risk alleles associated with
Tetralogy of Fallot (TOF), using a northern European discovery set of 835 cases and 5159 …