Turner syndrome: investigations
Evidence-based neurology checklist on turner syndrome: investigations: Prenatal diagnosis: maternal blood tests Human chorionic gonadotropin (hCG) Alpha-fetoprotein (AFP) Inhibin A Unconjugated estriol Karyotyping Prenatal diagnosis: foetal ultrasound features Postnatal diagnosis: karyotyping:…
Prenatal diagnosis: maternal blood tests
- Human chorionic gonadotropin (hCG)
- Alpha-fetoprotein (AFP)
- Inhibin A
- Unconjugated estriol
- Karyotyping
Prenatal diagnosis: foetal ultrasound features
Postnatal diagnosis: karyotyping: indications
Postnatal diagnosis: others
Baseline investigations and assessments
Magnetic resonance imaging (MRI) brain: 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.
- Brown WE, Kesler SR, Eliez S, et al. Brain development in Turner syndrome: a magnetic resonance imaging study. Psychiatry Res 2002; 116:187-196.
- Molko N, Cachia A, Riviere D, et al. Brain anatomy in Turner syndrome: evidence for impaired social and spatial-numerical networks. Cereb Cortex 2004; 14:840-850.
