DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome.
Chromosome 22q11.2 deletion (CH22qD) syndrome is also known as DiGeorge syndrome or velocardiofacial syndrome. This deletion syndrome is extremely common with nearly one in 4000 children being affected. Recent advances and a holistic approach to patients have improved the care and well-being of these patients. This review will summarize advances in understanding the health needs and immune system of patients with CH22qD syndrome. Patients will most often need interventions directed at maximizing function for many organ systems but can ultimately have a high level of functioning.
Sullivan
Kathleen E
KE
Department of Pediatrics, Division of Allergy & Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. sullivak@mail.med.upenn.edu
D000293:Adolescent; D000328:Adult; D000486:Allergy and Immunology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008957:Models, Genetic