Turner syndrome: investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Turner syndrome: investigations. Human chorionic gonadotropin (hCG), Alpha-fetoprotein (AFP), Inhibin A. Fully referenced neurology checklist.
Prenatal diagnosis: maternal blood tests
- Human chorionic gonadotropin (hCG)
- Alpha-fetoprotein (AFP)
- Inhibin A
- Unconjugated estriol
- Karyotyping
Prenatal diagnosis: foetal ultrasound features
Locked: subscribe to see this section.
Postnatal diagnosis: karyotyping: indications
Locked: subscribe to see this section.
Postnatal diagnosis: others
Locked: subscribe to see this section.
Baseline investigations and assessments
Locked: subscribe to see this section.
Magnetic resonance imaging (MRI) brain: features
Locked: subscribe to see this section.
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.
