Cardiovascular anomalies are present in 80% of neonates with 22q11. 2 deletion syndrome.
Three genes in chromosome 22q11. 2 (TBX1, CRKL, and ERK2) have been identified …

Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of
clinical diagnosis of 22q11. 2 deletion syndrome (22q11. 2DS) and still represent the main …

OBJECTIVES The purpose of this study was to determine the frequency of chromosome
22q11 deletions in patients with isolated anomalies of the aortic arch and its branches …

The Hedgehog signaling pathway is critical for a significant number of developmental
patterning events. In this study, we focus on the defects in pharyngeal arch and …

Copy number variants (CNVs) are suggested to have a widespread impact on the human
genome and phenotypes. To understand the role of CNVs across human diseases, we …

Background Tetralogy of Fallot (ToF), the most frequent cyanotic congenital heart disease, is
associated with a wide range of intra-and extracardiac phenotypes. In order to get further …

Purpose Patients with cardiovascular malformations (CVMs) and deletion 22q11 from our
series were studied in order to (1) analyze the association with dysmorphic features and …

OBJECTIVES: Identification of variables influencing surgical outcome in patients treated for
pulmonary atresia with ventricular septal defect and major aortopulmonary collateral …

The population of neonates and children with congenital heart defects presents about a 30%
prevalence of associated genetic syndrome or additional extracardiac anomalies and may …

Objectives: Conotruncal malformations (CTMs) are a major feature of 22q11 microdeletion
(22qdel). The prevalence of 22qdel in fetuses harboring these defects is unknown. We …