Genetic Disorders

XO Missing X chromosome # of chromosomes = 45 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

XXY Males with an extra X # of chromosomes = 47 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

XYY Males with extra Y # of chromosomes = 47 Jacob’s Syndrome XYY Males with extra Y # of chromosomes = 47

Jacob’s Syndrome more active normal intelligence, slight disabilities slightly taller than average more active normal intelligence, slight disabilities delayed emotional maturity normal sexual development 1: 1000 male births

Chromosome 21 is the smallest human but still 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 sample of embryo cells stain & photograph chromosomes Amniocentesis in 2nd trimester sample of embryo cells stain & photograph chromosomes Analysis of karyotype