DiGeorge Syndrome Questions & Answers

Updated: Oct 14, 2021
  • Author: Erawati V Bawle, MD, FAAP, FACMG; Chief Editor: Harumi Jyonouchi, MD  more...
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Questions & Answers

Overview

Which imaging studies are performed in the diagnosis of thymic and cardiovascular abnormalities in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What are the characteristic facial features of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What are the signs and symptoms of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which genetic studies are performed in the diagnosis of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which lab tests are performed in the diagnosis of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

How are congenital heart defects managed in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

How is hypocalcemia managed in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

How are thymus abnormalities managed in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of surgery in the treatment of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which early intervention services are indicated in the treatment of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What are the clinical features in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What disorders are included in in 22q11.2 deletion syndrome (22q11.2DS)?

What is the difference between partial and complete 22q11.2 deletion syndrome (22q11.2DS)?

What is the prevalence of B-lymphocyte defects in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the pathophysiology of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of immunodeficiency in the pathogenesis of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of autoimmune diseases in the pathogenesis of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of neuropsychiatric disorders in the pathogenesis of22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the mode of inheritance in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the prevalence of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the prognosis of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is included in patient education about 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Presentation

Which clinical history findings are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which craniofacial features are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What causes increased susceptibility to infection in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which autoimmune diseases may be present in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What causes feeding difficulties in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which developmental delays and learning difficulties are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which behavioral and neuropsychiatric problems are seen in patients with 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What are the findings of parathyroid deficiency in patients with 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which endocrinologic findings are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which conditions are associated with 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which physical findings are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which ocular findings are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which skeletal findings are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which pulmonary findings are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which cardiac findings are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which GI findings are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What are the possible complications of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

DDX

How is 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS) diagnosed?

Which conditions should be included in the differential diagnoses of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Workup

What is the role of lab testing in the diagnosis of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of genetic studies in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What are indications for 22q11.2 deletion syndrome (22q11.2DS) screening?

Which clinical findings should prompt a lab confirmation of the diagnosis of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of complete blood count (CBC) in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of calcium and parathyroid hormone studies in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of dilated retinal exam in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of T-cell evaluation in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of flow cytometry in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of a reverse transcriptase (RT) PCR assay in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of antibody response testing in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of radiography in the workup of22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of CT scanning in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of echocardiography in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of angiography in the workup of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which tests are performed in the prenatal diagnosis of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which histologic findings are characteristic of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Treatment

How is 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS) treated?

Where are clinical guidelines for the 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS) found?

What should be included in patient education and evaluation of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS) in patients age 12 and older?

What guidelines are available for the long-term management of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

How is immunodeficiency treated in patients with 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

How are hypoparathyroidism and hypocalcemia treated in patients with 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of immunologic therapy in the treatment of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of thymus transplantation in the treatment of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of bone marrow transplantation in the treatment of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

How are feeding difficulties managed in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

How are developmental delays treated in patients with 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

How are cleft palate and airway abnormalities treated in 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which specialist consultations are beneficial to patients with 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What is the role of genetic counseling and screening in the treatment of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

What are the possible complications of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Medications

What is the role of medications in the treatment of 22q11.2 deletion syndrome (22q11.2DS) (DiGeorge syndrome) (DGS)?

Which medications in the drug class Antibiotics are used in the treatment of DiGeorge Syndrome?

Which medications in the drug class Regenerative Therapy are used in the treatment of DiGeorge Syndrome?