Congenital heart disease (CHD) is the most common congenital anomaly in newborn
babies. Cardiac malformations have been produced in multiple experimental animal …

Chromosomal abnormalities, including microdeletions and microduplications, have long
been associated with abnormal developmental outcomes. Early discoveries relied on a …

Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most
cases are of unknown pathogenesis. Objective: To determine the contribution of de novo …

Background Few studies have described the neuropsychological outcomes and frequency
of structural brain or genetic abnormalities in adolescents with single ventricle who …

Cardiovascular malformations are the most common type of birth defect and result in
significant mortality worldwide. The etiology for the majority of these anomalies remains …

Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …

ABSTRACT OBJECTIVE To establish the prevalence of submicroscopic genetic copy
number variants (CNVs) in fetuses with a structural ultrasound anomaly (restricted to one …

Objective Array comparative genomic hybridization (aCGH) is a molecular cytogenetic
technique that is able to detect the presence of copy number variants (CNVs) within the …

Abstract Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart
malformations. The genetic defect in most patients with non-syndromic congenital heart …

The human genome is enriched in interspersed segmental duplications that sensitize
approximately 10% of our genome to recurrent microdeletions and microduplications as a …