Congenital heart diseases represent one of the hallmarks of 22q11. 2 deletion syndrome. In
particular, conotruncal heart defects are the most frequent cardiac malformations and are …

Background We aim to describe the impact of 22q11. 2 deletion syndrome (22q11DS) on
clinical characteristics, postoperative course, and early and late outcomes of neonates …

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 …

Specific types and subtypes of cardiac defects have been described in children with 22q11.
2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects …

Abstract The 22q11. 2 deletion syndrome has an estimated prevalence of 1 in 4–6,000
livebirths. The phenotype varies widely; the most common features include: facial …

Abstract The 22q11. 2 deletion syndrome is characterized by multiple congenital anomalies
including conotruncal cardiac defects. Identifying the patient with a 22q11. 2 deletion …

Objective To analyze the spectrum of prenatally diagnosed congenital heart disease in a
Korean population with 22q11. 2 deletion syndrome, and to provide guidelines for screening …

BACKGROUND: The phenotype associated with deletion of the 22q11. 2 chromosomal
region is highly variable, yet little is known about the source of this variability …

We performed this study to determine the frequency of 22q11 deletions and associated
phenotypic features and abnormalities in conotruncal heart defects. Sixty-one patients with …

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 …