DiGeorge syndrome: systemic features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
DiGeorge syndrome: systemic features. It is caused by deletion of chromosome 22q11.2. Fully referenced neurology checklist.
Genetics
- It is caused by deletion of chromosome 22q11.2
- The transmission is autosomal dominant
Pathological hallmarks
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Facial dysmorphic features
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Cardiovascular features
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Endocrine features
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Skeletal features
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Genitourinary features
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Gastrointestinal features
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Other features
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Synonym
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References
- Demily C, Rossi M, Schneider M, et al. Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome. Encephale 2015; 41:266-273.
- Al-Jenaidi F, Makitie O, Grunebaum E, Sochett E. Parathyroid gland dysfunction in 22q11.2 deletion syndrome. Horm Res 2007; 67:117-122.
- Ravnan JB, Chen E, Golabi M, Lebo RV. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genet 1996; 66:250-256.
- Isgandarova K, Molatta S, Sommer P. Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood-a case report. Eur Heart J Case Rep 2021; 5:ytab166.
- Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997; 34:798-804.
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