DiGeorge Syndrome Workup

  • Author: Erawati V Bawle, MD, FAAP, FACMG; Chief Editor: Harumi Jyonouchi, MD   more...
 
Updated: May 15, 2012
 

Laboratory Studies

The signs and symptoms suggesting this diagnosis depend on the patient’s age at evaluation, but, generally 2, or more of the following should prompt a laboratory confirmation of the diagnosis:

  • Conotruncal heart anomalies
  • Palatal defects
  • Hypernasal speech
  • Nasopharyngeal reflux
  • Developmental/learning disabilities
  • Behavioral/psychiatric problems
  • Immune deficiency
  • Hypocalcemia
  • Typical facial features

The array comparative genomic hybridization (aCGH) test is preferable, which can detect the classic chromosome 22q11.2 deletion as well as other chromosomal large and submicroscopic deletions/duplications. It may also provide refinements of the breakpoints, although the size of the deletion has not yet shown any clinical correlation.[14] If aCGH is unaffordable/unavailable, fluorescence in situ hybridization (FISH) for the 22q11.2 deletion with a karyotype should be requested. The karyotype detects chromosome rearrangements and other chromosomal abnormalities. If the aCGH or the FISH test result is normal, TBX1 gene sequencing or TBX1 deletion/duplication analysis should be considered after consultation with a clinical geneticist.

Perform an absolute lymphocyte count in the peripheral blood. If lymphopenia is present, consult an immunologist and obtain T- and B-cell counts.

Measure ionized serum calcium levels to evaluate parathyroid function. If the levels are low, obtain simultaneous ionized serum calcium and parathyroid hormone levels. Also consult an endocrinologist.

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Imaging Studies

Perform chest radiography and other imaging studies based on the cardiologist's recommendations.

Chest radiography can reveal a decreased thymic silhouette but is unreliable. MRI is slightly better; however, thymic size evaluation is not recommended because it is a poor predictor of immune function.

Magnetic resonance angiography (MRA) or conventional angiography is necessary before performing neck surgery to identify abnormalities of the internal carotid arteries.

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Procedures

Cardiac catheterization studies are performed as needed to assess cardiac anatomy.

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Contributor Information and Disclosures
Author

Erawati V Bawle, MD, FAAP, FACMG  Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

C Lucy Park  MD, Head, Division of Allergy, Immunology, and Pulmonology, Associate Professor, Department of Pediatrics, University of Illinois at Chicago College of Medicine

C Lucy Park is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Medical Association, Chicago Medical Society, Clinical Immunology Society, and Illinois State Medical Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

John Wilson Georgitis, MD  Consulting Staff, Lafayette Allergy Services

John Wilson Georgitis, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American College of Chest Physicians, American Lung Association, American Medical Writers Association, and American Thoracic Society

Disclosure: Nothing to disclose.

David Pallares, MD  Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville School of Medicine

David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD  Associate Professor, Division of Pulmonary, Allergy/Immunology, and Infectious Diseases, Department of Pediatrics, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

The author and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Daniel AC Frattarelli, MD, FAAP, to the development and writing of this article.

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Mother and children with 22q11.2 deletion syndrome.
An African American girl with 22q11.2 deletion syndrome.
The same girl in previous image showing an asymmetric crying face.
 
 
 
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