942850
Description
Note by Ellie Quinn, updated more than 1 year ago
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Created by Ellie Quinn
almost 10 years ago
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Page 1
Karyotype : 45, XMainly sporadic non dysjunctionrarely gonadal mosaicism or translocation
99% of XO die as foetuses, prevalence in pop 1 in 2000. Short statureSwellingBroad chestLow HairlineLow-set earsNeck webbingNon working ovaries - amennorhea (no periods), sterileCongenital heart diseaseHypothyroidismReduced academic abilityBehaviour problems
Abnormalities can sometimes be picked up on ultrasound or on the down's syndrome testConfirmed with CVS or Amniocentesis
Clinical features
Genetics
esting
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