1. Unit 6: Karyotyping Notes
Thursday
Unit 6: Karyotyping Notes

2. (1) Karyotyping
Look at chromosome pairs to identify chromosomal-disorders.
Process:
Stain nitrogenous bases.
Organize homologues from longest  shortest.
Organize by banding pattern.
Sex chromosomes at the end.
Look for too many, missing, shortened, or lengthened chromosomes.

3. (2) Chromosomes Sex Chromosomes: Normal Numbers: Male = X and Y
Female = X and X
Normal Numbers:
23 pairs OR 46 total

6. (3) Down Syndrome Chromosomes: Physical Characteristics:
Trisomy 21 = 3 chromosomes at #21
Total = 47 chromosomes
Physical Characteristics:
Round-Asian-Like Facial features, short stature, heart defects
Shorter lifespan
Prone to Alzheimer’s and leukemia

7. (4) Patau Syndrome Chromosomes: Physical Characteristics:
Trisomy 13 = 3 chromosomes at #13
Total = 47 chromosomes
Physical Characteristics:
Eye, Brain and Circulatory defects
Cleft Palate
Death typical w/in months of birth

8. (5) Edward’s Syndrome Chromosomes: Physical Characteristics:
Trisomy 18 = 3 chromosomes at #18
Total = 47 chromosomes
Physical Characteristics:
Every organ defected
Death w/in months after birth

9. (6) Klinefelter Syndrome
Chromosomes:
XXY
Total = 47 chromosomes
Physical Characteristics:
Male sex organs, but underdeveloped + sterile
Other feminine body characteristics
Normal intelligence

10. (7) Turner’s Syndrome Chromosomes: Physical Characteristics:
Only 1 X chromosome
Total = 45 chromosomes
Physical Characteristics:
Female
Do not mature sexually + are sterile
Short stature
Normal Intelligence
(Most die before birth)