ppt课件-chromosome abnormalities- ms. ramirezs biology page(染色体异常,拉米雷斯女士的生物学页面).pptVIP

ppt课件-chromosome abnormalities- ms. ramirezs biology page(染色体异常,拉米雷斯女士的生物学页面).ppt

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Chromosome Abnormalities ANEUPLOIDY Karyotype Charts 1 single Y chromosome is a sufficient to produce maleness while its absence is necessary for femaleness…… Down Syndrome Trisomy 21 Often Down syndrome is associated with poor physical development and mental retardation, people with Down syndrome have features characteristic feature of the disease has been nimita and mongolism. When meiosis goes wrong Errors at meiosis occur more often in the egg cell as women get older, so the chances of a couple having a baby with Down syndrome rises from about one in 1400 in women under the age of 25, to one in a 100 by age 40. Turner’s Syndrome XO 45 chromosomes Don’t ovulate, slight mental retardation, sterile, 4’7” short, webbed neck, small wide breasts, broad chest, turned out elbows Klinefelter’s XXY or XXXY XXXXY Sterile High pitch voice Make little testosterone Taller by an inch Not homo- but not interested in girls… Overweight Gynecomastia XXX Super-females Inch or so taller Long legs- slim torso Normal /fertile Low normal intelligence 1 in 1000 XYY syndrome Supermales Tall above 6 feet Act normal Produce HIGH levels of testosterone Puberty- slender, severe acne, poorly coordinated Fertile Serial Killers- not true, But wife beaters? Maybe Trisomy 18 – Edwards Syndrome Mental retardation, seizures Small head Small wide set eyes Heart defects Clenched hands Patau Syndrome: Trisomy 13 Cleft lip or palate Clenched hands (with outer fingers on top of the inner fingers) Close-set eyes -- eyes may actually fuse together into one Decreased muscle tone Extra fingers or toes (polydactyly) Hernias: umbilical hernia, inguinal hernia Hole, split, or cleft in the iris (coloboma) Low-set ears Mental retardation, severe Scalp defects (missing skin) Seizures Single palmar crease Skeletal (limb) abnormalities Small eyes Small head (microcephaly) Small lower jaw (micrognathia) Undescended testicle (cryptorchidism) More than 80% die in the first month 3 years old

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