1. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Turner Syndrome Clinical features and karyotypes This presentation includes: Clinical features of Turner syndrome Clinical photographs showing features of Turner syndrome Histology slide of ovarian tissue in Turner syndrome Karyotypes of Turner patients.

2. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Turner Syndrome Clinical features Possible antenatal findings: Cystic hygroma, chylothorax, ascites, hydrops Possible neonatal features: Lymphoedema, webbed neck, coarctation of the aorta, renal anomalies Other features include: Short stature, infertility due to streak gonads or premature ovarian failure (if mosaic TS), educational or behavioural problems Note: Features are variable and lymphoedema may be the only clinical feature at birth.

3. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 2.3 ©Scion Publishing Ltd Photo. (c) courtesy of Dr Godfrey Wilson. Turner syndrome (a) Puffy feet. (b) redundant skin at back of neck. (c) Histology of gonads: ovarian cortical strome devoid of germ cell elements.

4. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk Fig. 2.13 ©Scion Publishing Ltd Karyotype of Turner Syndrome patient Although this patient will never be able to have children normally, treatment with oestrogens can allow her to develop normal secondary sex characteristics and greatly assist her personal and social life. Modern reproductive technology has allowed some Turner syndrome patients to bear children using donor eggs. Treatment with growth hormone can result in improved growth and final height.

5. © 2009 NHS National Genetics Education and Development CentreGenetics and Genomics for Healthcare www.geneticseducation.nhs.uk 45,X