Last reviewed: November 2017
Last updated: June  2016

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • cyanosis
  • signs of heart failure
  • heart murmur
  • characteristic facial features
  • cleft lip and palate
  • growth failure
  • seizure or tetany

Other diagnostic factors

  • presentation in infancy
  • feeding difficulty
  • speech delay
  • non-verbal learning disorder
  • frequent infections
  • schizophrenia
  • features of CHARGE syndrome

Risk factors

  • parent with DiGeorge syndrome

Diagnostic investigations

1st investigations to order

  • serum calcium
  • serum intact PTH
  • T-cell count
  • fluorescence in situ hybridisation
  • immune-specific titres (if previously immunised)
  • FBC
  • TSH
  • chest x-ray
  • ECG
  • serum immunoglobulins
Full details

Investigations to consider

  • lymphocyte mitogen and antigen proliferation
  • karyotype
  • echocardiogram
  • renal ultrasound
  • audiometry
  • dental and palatal evaluations
  • ophthalmology evaluation
Full details

Emerging tests

  • microarray copy number analysis
  • mean platelet volume
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Assistant Clinical Professor

Stanford University

Stanford

CA

Disclosures

SAMG is a co-author of a reference cited in this monograph.

Assistant Professor

David Geffen School of Medicine at UCLA

Los Angeles

CA

Disclosures

MGL is a co-author of a reference cited in this monograph.

Peer reviewers VIEW ALL

Director

Centro de Genetica Humana

Facultad de Medicina

ClĂ­nica Alemana-Universidad del Desarrollo

Santiago

Chile

Disclosures

GMR is a co-author of a reference cited in this monograph.

Associate Professor of Pediatrics

Division of Pulmonary, Allergy & Immunology, Cystic Fibrosis, and Sleep

Emory University

Atlanta

GA

Disclosures

LK is an investigator in clinical trials by Baxter Bioscience. These trials do not involve patients with 22q11DS. LK is an author of a number of references cited in this monograph.

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