DiGeorge syndrome , also known as 22q DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q Although there is no cure, treatment can improve symptoms. DiGeorge syndrome occurs in about 1 in 4, people. The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body.
Deletion 22q In addition to CHD, various organ systems can be involved, so that a multidisciplinary approach is needed in the evaluation of patients with Del DiGeorge and Velo-Cardio-facial syndromes are genetic conditions with overlapping features, including congenital heart defect CHD , facial anomalies, hypoplastic thymus with immune deficit, palatal anomalies, neonatal hypocalcemia, speech and learning disabilities.
These problems can vary widely from child to child, but may include heart defects, cleft palate, speech or feeding problems, difficulty fighting infections, low calcium levels, kidney problems, learning or behavioral issues, and facial differences. To avoid confusion, health care providers now typically call all of these conditions 22q This condition is caused by a missing a part of chromosome The specific area of the chromosome that is missing is 22q