© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Turner SyndromeClinical 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.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.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.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. 2.3 ©Scion Publishing LtdPhoto. (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.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

Fig. 2.13 ©Scion Publishing Ltd

Karyotype of Turner Syndrome patientAlthough 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.

© 2009 NHS National Genetics Education and Development Centre

Genetics and Genomics for Healthcarewww.geneticseducation.nhs.uk

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