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Karyotype

Karyotype. Karyotype. Picture of chromosomes from Prophase Purpose: analyzing of chromosomes for abnormalities. Answer first question on right hand side. Normal Female. Normal Male. Terms to Know. Autosomes – chromosomes 1-22 Sex chromosome – chromosome 23

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Karyotype

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  1. Karyotype

  2. Karyotype • Picture of chromosomes from Prophase • Purpose: analyzing of chromosomes for abnormalities Answer first question on right hand side.

  3. Normal Female Normal Male

  4. Terms to Know • Autosomes – chromosomes 1-22 • Sex chromosome – chromosome 23 • Monosomy - missing a chromosome (2n-1) • Trisomy - one extra chromosome (2n+1) • Nondisjunction- when chromosomes fail to separate properly Answer questions on right hand side.

  5. Let’s Review…. • How many chromosomes come from your Father? • How many chromosomes come from your Mother? • What are chromosome pairs 1-22 called? • What is chromosome pair 23 called? 23 23 Autosomes Sex chromosome

  6. Turner’s syndrome • Missing a X chromosome on 23rd chromosome • Causes underdeveloped ovaries, short stature, webbed, and only found in women. • Bull neck and broad chest. Individuals are sterile and lack expected secondary sexual characteristics. • Mentally handicapped typically not evident.

  7. Kleinfelter’s syndrome(or Klinefleter’s) • Caused by nondisjunction of the X chromosome on 23rd chromosome (XXY, XXYY) • Males with some development of breast tissue • Individuals have little body hair, typically tall, and have small testes. • Infertility results from absent sperm. • Mentally handicapped may or may not be present.

  8. Down’s Syndrome • Caused by non-disjunction of the 21st chromosome. • The individual has a trisomy 21.

  9. The very tragic disease… hairy ears Y-linked trait, which is extremely rare. • Symptoms… hairy ears • Only 1 cure known….

  10. Flip Paper OverKaryotype Practice: circle any abnormalities Trisomy 21 = Down’s Syndrome #2 #1 XO = Turner’s Syndrome

  11. Flip Paper OverKaryotype Practice: circle any abnormalities Trisomy 18 = Edward’s Syndrome #4 #3 XXY = Kleinfelter’s Syndrome

  12. Flip Paper OverKaryotype Practice: circle any abnormalities Trisomy 13 = Patau Syndrome #5

  13. Pedigree

  14. Pedigree • Diagram that shows how a trait is passed from generation to generation • Key: Female (normal) Female (has the trait) Male (normal) Male (has the trait) Married Married Siblings Carrier (husband and wife) (brothers and sister)

  15. How to read pedigrees? • How many generations are shown? • How many affected people are there? • How many affected people are female? • How many affected people are male? 3 7 4 3

  16. Sex-linked recessive pedigree • All carriers are female. Most affected are male. Answer last question on right hand side.

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