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AMNIOCENTESIS
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Detecting Genetic disorders
Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child Chorionic villus sampling (CVS) done earlier Can detect some genetic disorders It cant cure them it can only detect them Usually done on a woman with a history of genetic disorders Or a woman at high risk (over 35) Do a ultrasound first to detect where the baby is ( fetal cells floating around) Make a Karyotype from the baby’s cells Karyotye- picture of the chromosomes of a cell, grouped into pairs (Microscope) Look for an abnormal number of chromosomes- should have 46 ( stained)
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KARYOTYPE
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Nondisjunction- is the failure of chromosome pairs to separate properly during meiosis
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Abnormal Chromosomes Number
Monosomy- only one chromosomes of a usual pair is present ( Mono means one) Trisomy- 3 copies of a chromosome instead of the usual pair (2) ( tri means 3) The most common abnormalities detected are Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Turner syndrome (monosomy X).
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Down Syndrome
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Trisomy 18 , Edwards Syndrome
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Kleinfelter, XXY XXY Kleinfelters - human males have an extra X chromosome, infertile, increased breast tissue,
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Turners Syndrome, X0 YO Lethal- die ( Monosomy Y)
XO Tuners Syndrome- ( monosomy X) physical abnormalities, such as short stature, sterile, webbed neck YO Lethal- die ( Monosomy Y)
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Prader- Willie Syndrome
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Patau, Trisomy 13
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Superfemale, XXX XXX Superfemale - Thus, Triple X syndrome most often causes no unusual physical features or medical problems
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