Karyotype

Investigating Chromosomal Abnormalities

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

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.

Trisomy 21 – Downs Syndrome

Trisomy 13 – Patau Syndrome

Turner Syndrome - only 1 X chromosome (females only)

Kleinefelter Syndrome – XXY (males only)