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 …

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

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 …

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 …

Abstract Clinical features of 22q11. 2 microdeletion syndrome (22q11. 2DS) are highly
variable between affected individuals and frequently include a subset of conotruncal and …

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 …

Few studies have investigated the prevalence of 22q11. 2 deletion syndrome (22q11. 2DS)
among patients with isolated heart defects or nonconotruncal heart defects. Polymerase …

22q deletion syndrome (22q11. 2DS) is most often correlated prenatally with congenital
heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11 …

Purpose: The incidence of 22q11. 2 deletion syndrome is approximately 1 in 5,000 births,
and accounts for 5–30% of all heart defects, making it one of the more common genetic …

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