The 22q11. 2 deletion syndrome (22q11. 2DS) is present in approximately 5 to 8% of
patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart …

INTRODUCTION: No consensus exists regarding the ability to detect the 22q11 deletion
syndrome based on clinical assessment. Traditionally, diagnosis depends on clinical …

Abstract Background The 22q11. 2 microdeletion syndrome (22q11. 2 deletion syndrome-
22q11. 2DS) refers to congenital abnormalities, including primarily heart defects and facial …

Objective Based on experiences and results from newborn screening for severe combined
immunodeficiency (SCID), we evaluated the occurrence of chromosome 22q11. 2 deletion …

Abstract The 22q11. 2 duplication syndrome has been recently characterized as a new entity
with features overlapping the 22q11. 2 deletion syndrome. Most 22q11. 2 duplications …

Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart
defects (CHD) of the cardiac outflow tracts or great arteries. Its frequency is estimated in …

Deletion of chromosome 22q11 gives rise to a spectrum of anomalies, including cleft palate.
These are grouped together as the DiGeorge or velocardiofacial syndrome. Patients with …

Background: The prevalence of 22q11. 2 deletion in patients presenting with isolated cleft
palate has not been systematically assessed. Objective: To assess the evidence in the …

Es sabido que en la actualidad las enfermedades con base total o parcialmente genética
constituyen un problema para la salud pública y ocupan en nuestros días un lugar cada vez …

DELEA, Marisol et al. Analysis of chromosomal abnormalities, genomic imbalances, and
sequence variants as cause of congenital heart defects. Rev. argent. salud pública [online] …