Turner syndrome: clinical features
Evidence-based neurology checklist on turner syndrome: clinical features: Genetics This is caused by a chromosomal aneuploidy There is a single X chromosome (45X) Dysmorphic features Cognitive impairments Other neurological features Reported associations Neonatal features Cardiac features…
Genetics
- This is caused by a chromosomal aneuploidy
- There is a single X chromosome (45X)
Dysmorphic features
Cognitive impairments
Other neurological features
Reported associations
Neonatal features
Cardiac features
Genitourinary features
Skeletal features
Other features
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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