1. Chromosomal Mutations & Karyotype Analysis

2. 2. Chromosomal Mutations
Change in # or structure of chromosome
Happens as result of chromosomes breaking during meiosis
Can occur in any organism, but normally in plants
Five types

3.  Deletion
Loss of part of chromosome

4.  Insertion/Duplication
Part of a chromosome is repeated

5.  Inversion
Part of a chromosome breaks out and reinserts backwards.

6.  Translocation
Part of a chromosome breaks off & attaches to another chromosome

7.  Nondisjunction
During Meiosis I, homologous chromosomes DO NOT separate correctly
Result – too many or too few chromosomes in gamete

9. 1. Look at the karyotype for the mutation

10. Down Syndrome – Trisomy 21
Intellectual and developmental disabilities
specific physical features: flat face with upward slant of eyes, poor muscle tone, small hands & feet
may have heart defects and respiratory problems
National Down syndrome society

11. 2. Look at the karyotype for the mutation

12. Trisomy 18 (Edwards syndrome)
abnormal brain function that is very severe
Heart, Kidney, intestinal problems
Severe developmental delays
usually die within 1-2 years old

13. 3. Look at the karyotype for the mutation

14. Trisomy 13 (Patau syndrome)
Extra fingers or toes
Cleft lip or palate, Close set eyes, Scalp defects
Problems with heart and brain structure
die within 1-2 years old

15. 4. Look at the karyotype for the mutation

16. Trisomy on Sex Chromosomes
XYY Syndrome – Extra Y
normal appearance, may be taller than average, delayed development of speech and motor skills, not likely to be inherited
XXX Syndrome – Triple X
normal appearance, may be taller than average, delayed development of speech and motor skills, not likely to be inherited, sometimes sterile/infertile

17. 5. Look at the karyotype for the mutation

18. Klinefelter’s Syndrome – XXY
Sterile/infertile, normal appearance
May be taller than average
May have less body or facial hair
delayed development of speech and motor skills
NOT more inclined toward homosexuality or bisexuality

19. 6. Look at the karyotype for the mutation

20. Monosomy Turner Syndrome – X
Missing part or all of second X chromosome
usually sterile/infertile
Shorter than average height, heart and kidney problems, Normal intelligence
99% embryos miscarriage or stillborn

21. Triploidy
69 chromosomes
In plants, produced seedless watermelons

22. Practice # 2

23. Practice #3

24. Comparing mitosis & meiosis
Function of process
Number of parent cell(s)
Number of daughter cells
Number of Cell Divisions
Produces body cells for growth or repair
Produces sex cells for reproduction 1 1 2 4 1 2

25. Anywhere (muscles, skin, heart, etc)
Mitosis Meiosis
Anywhere (muscles, skin, heart, etc)
Location in Body
Amount of Chromosomes in parent cell
Diploid
Amount of Chromosomes in each daughter cell
Type of Reproduction
Sex cells
diploid
haploid
Asexual
Sexual