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Karyotypes & Chromosome Mutations

Karyotypes & Chromosome Mutations. Look at the karyotype for the mutation. A karyotype is an organized profile of a person's chromosomes . In a karyotype, chromosomes are arranged and numbered by size, from largest to smallest.

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Karyotypes & Chromosome Mutations

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  1. Karyotypes & Chromosome Mutations

  2. Look at the karyotype for the mutation

  3. A karyotype is an organized profile of a person's chromosomes. • In a karyotype, chromosomes are arranged and numbered by size, from largest to smallest.

  4. Karyotypes are done by doctors to diagnose some genetic disorders

  5. A normal human karyotype has 46 chromosomes (23 pairs): #1-22 are called autosomes #23 are called sex chromosomes

  6. XX~ femaleXY~male

  7. RECALL…What is a mutation? • Any mistake or change in DNA sequence • Mutations can only be inherited if they occur in sex cells • Two types: Gene or chromosomal

  8. Chromosomal mutation: affects whole or part of a chromosome Gene mutation: Changes to the bases in the DNA of ONE gene

  9. Chromosomal Mutations • Change in # of chromosomes ORstructure of the chromosome • Abnormality detected on karyotype • Five types

  10. Can YOU spot the chromosomal mutation??

  11. 1) Deletion • Loss of all or part of a chromosome

  12. 2) Duplication • Produce extra copies of parts of a chromosome.

  13. 3) Inversion • Part of a chromosome breaks out and reinserts backwards.

  14. 4) Translocation • Part of a chromosome breaks off & attaches to another chromosome

  15. 5) Nondisjunction • Improper separation of homologous chromosomes during meiosis • Results in extra or missing chromosomes in gametes

  16. Types of Nondisjunction • Trisomy~ 3copies of a chromosome • Monosomy~ 1copy of a chromosome Remember—normally have 2 copies of each

  17. Can you spot the mutation?

  18. Down Syndrome – Trisomy 21 • Intellectual and developmental disabilities • may have heart defects and respiratory problems

  19. Look at the karyotype for the mutation

  20. Trisomy on Sex Chromosomes • XYY Syndrome – Extra Y • XXX Syndrome – Triple X

  21. What is the mutation? • Boy or Girl?

  22. Trisomy 13 (Patau syndrome) • Extra fingers or toes • Cleft lip or palate (deformed lips) • Heart and brain structure problems • Die within 1-2 years of age

  23. What is the mutation? • Boy or Girl?

  24. Turner’s Syndrome 45,X Webbed neck Infertile Swollen hands & feet at birth Heart defects

  25. Chromosomal Mutations Videos Chromosomal Mutations Visualizing Nondisjunction

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