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Download Human Chromosomal disorders
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Genetic Disorders Turner Syndrome XO Missing X chromosome # of chromosomes = 45 Turner Syndrome Female in appearance Infertility Short with broad chest Prominent ears, webbed neck Heart defects, kidney abnormalities 1: 2 000 births Klinefelter Syndrome XXY Males with an extra X # of chromosomes = 47 Klinefelter Syndrome Have male sex organs, but are sterile Feminine characteristics Some breast development Lack of facial hair Tall Normal intelligence 1: 2 000 births Jacob’s Syndrome XYY Males with extra Y # of chromosomes = 47 Jacob’s Syndrome slightly taller than average more active normal intelligence, slight disabilities delayed emotional maturity normal sexual development 1: 1000 male births Down Syndrome Trisomy 21 3 copies of chromosome 21 Chromosome 21 is the smallest human but still causes severe effects Down Syndrome * Mental and physical challenges Round full face, larger forehead Thick tongue ,speech problems Short, stocky, big neck Frequency of Down women over 20’ - 1:1000 women over 40’ – 1:40 Edward’s Syndrome Trisonomy 3 copies of chromosome #18 # of chromosomes = 47 many defective organ systems life expectancy less than a month 1: 6 000 birth Edward’s Syndrome Genetic Testing Amniocentesis in 2nd trimester sample of embryo cells stain & photograph chromosomes Analysis of karyotype
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