Down’s syndrome: systemic features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Down’s syndrome: systemic features. Complete trisomy of chromosome 21: in 95% cases. Fully referenced neurology checklist.
Genetics
- Complete trisomy of chromosome 21: in 95% cases
- Chromosomal translocations: in 4%
- Mosaicism: in 1%
Epidemiological features
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Dysmorphic features
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Cardiac features
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Gastrointestinal features
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Ophthalmic features
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Endocrine features
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Other features
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References
- Santoro JD, Pagarkar D, Chu DT, et al. Neurologic complications of Down syndrome: a systematic review. J Neurol 2021; 268:4495-4509.
- Lott IT. Neurological phenotypes for Down syndrome across the life span. Prog Brain Res 2012; 197:101-121.
- Noble J. Natural history of Down's syndrome: a brief review for those involved in antenatal screening. J Med Screen 1998; 5:172-177.
- Lott IT, Dierssen M. Cognitive deficits and associated neurological complications in individuals with Down's syndrome. Lancet Neurol 2010; 9:623-633.
- Fortea J, Zaman SH, Hartley S, Rafii MS, Head E, Carmona-Iragui M. Alzheimer's disease associated with Down syndrome: a genetic form of dementia. Lancet Neurol 2021; 20:930-942.
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