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Understanding Chromosomal Abnormalities through Karyotype Analysis

Explore how karyotyping helps identify genetic abnormalities by matching chromosome pairs to reveal missing, extra, or broken chromosomes. Discover the impact of abnormalities ranging from minor to severe conditions like Down, Patau, Turner, and Klinefelter Syndromes.

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Understanding Chromosomal Abnormalities through Karyotype Analysis

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  1. 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)

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