1. Investigating Chromosomal Abnormalities
Karyotype
Investigating Chromosomal Abnormalities

2. Karyotype Mitosis is stopped at metaphase
Cells are stained with chemicals that reveal banding patterns in the chromosomes
Geneticists match up chromosome pairs to identify abnormalities

3. Chromosomal Abnormalities
A karyotype may reveal missing, extra or broken chromosomes
Some abnormalities have little impact on a person’s life
Some abnormalities can affect growth and development (physical and or mental)
Severe abnormalities may cause death at a very early age.

4. Trisomy 21 – Downs Syndrome

5. Trisomy 13 – Patau Syndrome

6. Turner Syndrome - only 1 X chromosome (females only)

7. Kleinefelter Syndrome – XXY (males only)