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Maite Solé Wrote: ------------------------------------------------------- > Dear John > > Turner syndrome is caused by the loss of one X > chromosome ( usually paternal) in fetal cells, > producing a females conceptus with 45 chromosomes. > This results in early spontaneous loss of the > fetus in over 95% of cases. > > Severely affected fetuses who survive to the > second trimester can be detected by > ultrasonography, which shows cystic hygroma, > chylothorax, ascites and hydrops. Fetal mortality > is very high in these cases. > > The incidence of Turner syndrome in liveborn > females infants is 1 in 2.500. > Phenotypic abnormalities vary considerably but are > usually mild. In some infants the only detectable > abnormality is lymphoedema of the hands and feet. > The most consistent features of the syndrome are > short stature and infertllity from streak gonads, > but neck webbing, broad chest, cubitus valgus, > coarctation of the aorta, renal anomalies and > visual problems may also occur. > > Intelligence is usually within the normal range, > but a few girls have educational or behavioural > problems. > > Associations with autoimmune thyroiditis, > hypertension, obesity and non insulin dependent > diabetes have been reported. > > Growth can be stimulated with androgens or growth > hormone, and oestrogen replacement treatment is > necessary for pubertal development. > > A proportion of girls with Turner syndrome have a > mosaic 46XX/45X karyotype and some of these have > a normal gonadal development and are fertile, > although they have an increased risk of early > miscarriage and of premature ovarian failure. > > Other X chromosomal abnormalities including > deletions or rearrangements can also result in > Turner syndrome. > > Maite Sole > Clinical geneticist
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