2. • Purpose:
To look at chromosome pairs to identify
chromosomal-disorders.
• Process:
1. Stain DNA.
2. Organize longest shortest.
3. Organize by banding pattern.
4. Sex chromosomes at the end.
5. Look for too many, missing, shortened, or
lengthened chromosomes.
(1) Karyotyping:
3. • Sex Chromosomes:
– Male = X and Y
– Female = X and X
• “Normal” Numbers:
– 23 pairs OR 46 total
(2) Chromosomes:
4.
5.
6. • Chromosomes:
– 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
(3) Down Syndrome:
7. • Chromosomes:
– 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
(4) Patau Syndrome:
8. • Chromosomes:
– Trisomy 18 = 3 chromosomes at #18
– Total = 47 chromosomes
• Physical Characteristics:
– Every organ defected
– Death w/in months after birth
(5) Edward’s Syndrome:
9. • Chromosomes:
– XXY
– Total = 47 chromosomes
• Physical Characteristics:
– Male sex organs, but underdeveloped + sterile
– Other feminine body characteristics
– Normal intelligence
(6) Klinefelter Syndrome:
10. • Chromosomes:
– Only 1 X chromosome
– Total = 45 chromosomes
• Physical Characteristics:
– Female
– Do not mature sexually + are sterile
– Short stature
– Normal Intelligence
– (Most die before birth)
(7) Turner’s Syndrome: