Download - Shereshevsky turner syndrome
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SHERESHEVSKY-TURNER SYNDROME
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HISTORY
Identified in 1928 Dr. Henry H. Turner Chromosomal mutation discovered in
1959
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KARYOTYPE Disorder found on 23rd chromosome pair One X chromosome is partly or completely missing 23rd chromosome pair controls sex hormones and without an X, those hormone are missing
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MAJOR SYMPTOMS/EFFECTS
Affects only females Stunted growth No puberty No sex one X chromosome Infertility
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MINOR SYMPTOMS/EFFECTS
Learning loss Obesity Heart, kidney, thyroid disorders Low hairline Shield-shaped chest Webbing of skin on neck
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PREVALENCE The syndrome affected 1 in 3000 female
births.
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TREATMENT: In the ovaries, oocytes speed through
development. Intelligence is normal, and these women can lead fairly normal lives if they receive hormone supplements.
Using growth hormone adds up to three inches or so of height. Although individuals who are mosaics may have children.
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Once way to diagnose for Shereshevsky-Turner syndrome is particularly chromatin of gonosom:
Өвчтөний хэлний өнгөрөөс тавиур шилэн дээр бэлдсэн мазокийг метилийн спиртэнд хийж 10—15 минут байлгаж, батжуулалт хийсний дараа хатааж ацетоорсеинаар 3 минутын хугацаатай будна. Ингэж бэлдсэн материалыг микроскопоор харж шинжлэнэ.
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HOW TO PREPARE ACETOORSEIN SOLUTION:
60 мл мөсөн цуугийн хүчлийг уурштал нь халаасны дараа 2г/л орсен 40 мл нэрмэл ус хийж хөргөөд шүүж хэрэглэнэ.
50 мл мөсөн цуугийн хүчил , 60%-ийн 50 мл сүүний хүчлийн ходангийг эргэх хөргөлтийн туслалцаатайгаар буцалтал нь халаасны дараа 2 г орсен нэмж 5 минут буцалгана. Дараа нь кранты хүйтэн усанд тавьж түргэн хөргөх хэрэгтэй. Шүүх шаардлага байхгүй уусмалын дээд талаас авч хэрэглэнэ.
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SOURCES “Анагаах ухааны удам зүй” И.
Пүрэвдорж “Human genetics” Ricki lewis “Disease” Barbara Hamann www.slideshare.com www.wikipedia.ru.com www.wikipedia.mn www.findarticles.com
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