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DiGeorge Syndrome (22q11.2 Deletion Syndrome): What It Is, Symptoms ...
What is DiGeorge syndrome (22q11.2 deletion syndrome)? DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition that can affect many parts of your body and causes heart abnormalities, an impaired immune system and developmental delays.
DiGeorge Syndrome: Symptoms, Causes, Diagnosis, and Treatment
DiGeorge syndrome is a rare genetic disorder caused when part of chromosome 22 is missing, causing heart defects, intellectual disability, and other signs.
DiGeorge (22q11.2 deletion) syndrome: Clinical features and diagnosis
DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. Most cases are caused by a heterozygous chromosomal deletion at 22q11.2. Chromosome 22q11.2 deletion syndrome (22qDS) includes DGS and other similar syndromes, such as velocardiofacial syndrome.
DiGeorge syndrome (22q11.2 deletion syndrome) - Mayo Clinic
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a condition caused when a small part of chromosome 22 is missing. This deletion causes several body systems to develop poorly. The term 22q11.2 deletion syndrome covers terms once thought to be different conditions.
22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf
Treatment of manifestations: Cardiac anomalies are treated as recommended by cardiologist; surgical repair for palate anomalies as recommended by otolaryngologist; feeding issues are treated with modification of spoon placement; standard treatment for gastroesophageal reflux and gastrointestinal dysmotility; immune deficiency requires aggressive...
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