Turner syndrome: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Turner syndrome: clinical features. This is caused by a chromosomal aneuploidy. There is a single X chromosome (45X). Fully referenced neurology checklist.
Genetics
- This is caused by a chromosomal aneuploidy
- There is a single X chromosome (45X)
Dysmorphic features
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Cognitive impairments
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Other neurological features
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Reported associations
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Neonatal features
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Cardiac features
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Genitourinary features
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Skeletal features
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Other features
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References
- Marco EJ, Skuse DH. Autism-lessons from the X chromosome. SCAN 2006; 1:183–193.
- Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med 2004; 351:1227-1238.
- Saenger P, Wikland KA, Conway GS, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001; 86:3061-3069.
- Ross JL, Stefanatos GA, Kushner H, Zinn A, Bondy C, Roeltgen D. Persistent cognitive deficits in adult women with Turner syndrome. Neurology 2002; 58:218-225.
- Brown WE, Kesler SR, Eliez S, et al. Brain development in Turner syndrome: a magnetic resonance imaging study. Psychiatry Res 2002; 116:187-196.
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