Clinical Manifestations of 22q11.2 Deletion Syndrome

DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic disorder caused by hemizygous microdeletion of the long arm of chromosome 22. In the last decades, the introduction of fluorescence in situ hybridization assays, and in selected cases the use of multiplex ligation-dependent probe amplification, has allowed the detection of chromosomal microdeletions that could not be previously identified using standard karyotype analysis. The aim of this review is to address cardiovascular and systemic involvement in children with DGS, provide genotype-phenotype correlations, and discuss their medical management and therapeutic options.

Source: Heart Failure Clinics - October 25, 2021 Category: Cardiology Authors: Annapaolo Cirillo, Michele Lioncino, Annachiara Maratea, Annalisa Passariello, Adelaide Fusco, Fiorella Fratta, Emanuele Monda, Martina Caiazza, Giovanni Signore, Augusto Esposito, Anwar Baban, Paolo Versacci, Carolina Putotto, Bruno Marino, Claudio Pigna Source Type: research