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Chromosome Abnormalities ANEUPLOIDY

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

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Chromosome Abnormalities ANEUPLOIDY

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  1. Chromosome AbnormalitiesANEUPLOIDY Karyotype Charts

  2. 1 single Y chromosome is a sufficient to produce maleness while its absence is necessary for femaleness……

  3. 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.

  4. 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.

  5. 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

  6. Klinefelter’s XXYor XXXY XXXXY • Sterile • High pitch voice • Make little testosterone • Taller by an inch • Not homo- but not interested in girls… • Overweight

  7. Gynecomastia

  8. XXX Super-females • Inch or so taller • Long legs- slim torso • Normal /fertile • Low normal intelligence • 1 in 1000

  9. 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

  10. Trisomy 18 – Edwards Syndrome • Mental retardation, seizures • Small head • Small wide set eyes • Heart defects • Clenched hands

  11. 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)

  12. More than 80% die in the first month

  13. 3 years old

  14. Summary key Non-autosomal

  15. key

  16. Autosomal

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