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Turner syndrome

Background

Turner syndrome: Bonnevie-Ullrich; Gonadal Dysgenesis (XO); MonosomyX; Turner-Ullrich; XO syndrome

Although the features of the syndrome in girls were described earlier, the syndrome is named after Dr Henry Turner who reported a number of girls with the features of the syndrome in a paper of 1938. Turner syndrome is a chromosomal condition affecting 1 in 2,500 girls where the second X chromosome is absent or abnormal. It is one of the most common chromosomal disorders. The diagnosis is confirmed by examination of chromosomes from the blood cells (Karyotype). Sometimes the second X chromosome is missing from, or abnormal in, only some cells in the body, but not all. This is referred to as Turner mosaicism.

What are the symptoms? View What are the symptoms?

Medical written November 1995 by Dr Richard Stanhope. Last updated September 2005 by Dr Richard Stanhope, Consultant Paediatric Endocrinologist, Great Ormond Street Hospital, London, UK. Psychological and behavioural characteristics last updated February 2004 by Dr O Udwin, Consultant Clinical Child Psychologist, West London Mental Health NHS Trust, London, UK and Dr A Kuczynski, Child Clinical Psychologist, South London & Maudsley NHS Trust, London, UK.

 

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