Have you ever heard of DiGeorge Syndrome? As part of the developmental defect, the thymus gland may be affected and T-lymphocyte production may be impaired, resulting in low T-lymphocyte numbers and frequent infections. DiGeorge Syndrome is also known as 22q11.2 deletion syndrome. DiGeorge Syndrome Definition DiGeorge syndrome (also called 22q11 deletion syndrome, congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a birth defect that is caused by an abnormality in chromosome 22 and affects the baby's immune system. Boston Children’s Hospital provides a wide range of diagnostic, treatment, consultation and advocacy services for children with 22q11.2 deletion syndrome. DiGeorge Syndrome is a primary immunodeficiency disease caused by abnormal migration and development of certain cells and tissues during fetal development. So what is it? It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. OVERVIEW. The thymus is the “school house” where T-cells are … Learn more about the symptoms of Coronavirus (COVID-19), how you can protect your family, and how Nationwide Children's Hospital is preparing. Other names for this syndrome include the following: Velocardiofacial syndrome; Shprintzen’s syndrome; Conotruncal anomaly face syndrome; 22q11.2 deletion syndrome; Deletion is heterozygous and involves the long arm (q) of chromosome 22. DiGeorge syndrome (DGS), also known as 22q11.2 deletion syndrome or velocardiofacial syndrome, is one of the most common primary immunodeficiencies, found in approximately 1 in 3000 live births. Most deletions arise de novo with same frequency in all populations, however it is possible that there is some genetic predisposition. This case report serves to illustrate the occurrence of psychotic disturbances in patients with DiGeorge syndrome. DiGeorge syndrome (DGS) is one of a group of phenotypically similar disorders—including velocardiofacial syndrome (VCFS, or Shprintzen syndrome) and conotruncal anomaly face (CTAF) syndrome—that share a microdeletion of chromosome 22q11.2, a region known as the DGS critical region (see the image below). DiGeorge syndrome occurs due to a microdeletion in a segment of chromosome 22. While this may seem a odd practice, it is useful to see multiple examples of how DiGeorge syndrome will be characterized on standardized exams (namely the boards and the shelf exams). According to the Mayo clinic, it's a genetic disorder caused by the deletion of a section of chromosome 22. Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. Digeorge Syndrome. DiGeorge syndrome overlaps clinically with the disorder described by the Japanese as 'conotruncal anomaly face syndrome' (Kinouchi et al., 1976; Takao et al., 1980; Shimizu et al., 1984), where the cardiovascular presentation is the focus of attention.The term conotruncal anomaly face syndrome is cumbersome and has the disadvantage of using embryologic assumptions as a title. This page is dedicated to organizing various examples of standardized exam questions whose answer is DiGeorge syndrome.. How we care for 22q11.2 deletion syndrome. DiGeorge Syndrome (DGS) is a primary immunodeficiency disease (PIDD) associated with susceptibility to infections due to decreased T cell production and function due to an absent or poorly developed thymus. Patients tend to exhibit heart defects, cleft palate, weak immune systems, developmental delays, and… Coronavirus (COVID-19): Information for Patient Families. Our experts are experienced in caring for children who have 22q11.2 deletion. DiGeorge Syndrome: is a genetic condition where a portion of the 22nd chromosome (22q11) is deleted. I hadn't until I had a pediatric patient with the diagnosis.