The deletion occurs near the middle of the chromosome at a location designated q The features of this syndrome vary widely, even among affected members of the same family. Common signs and symptoms include heart abnormalities that are often present from birth, an opening in the roof of the mouth a cleft palate , and distinctive facial features. People with 22q Affected individuals may also have breathing problems, kidney abnormalities, low levels of calcium in the blood which can result in seizures , a decrease in blood platelets thrombocytopenia , significant feeding difficulties, gastrointestinal problems, and hearing loss. Skeletal differences are possible, including mild short stature and, less frequently, abnormalities of the spinal bones.
Velo-Cardio-Facial Syndrome Brochure | Amanda McPherson Foundation
Velo-cardio-facial syndrome VCFS is the most common genetic multiple anomaly disorder in humans. It is caused by a microdeletion of DNA from chromosome 22, typically encompassing approximately 40 genes. Approximately distinct anomalies and disorders are associated with VCFS. Recent data has shown that more than 1 in every pregnancies carry the deletion from chromosome 22 that causes VCFS.
DiGeorge syndrome, more accurately known as 22q The condition is also known by several other names, including velocardiofacial syndrome, Shprintzen syndrome, and conotruncal anomaly face syndrome. People with 22q11 DS can have a wide variety of medical conditions, including heart defects, cleft palate, speech or feeding problems, difficulty fighting infections, low calcium levels, kidney problems, learning or behavioral issues, and unique facial features.
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.