Karyotyping and Pedigree Analysis

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Karyotyping and Pedigree Analysis
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Normal Human Karyotype

• 46 Chromosomes
• 44 autosomes 2 sex chromosomes
• Chromosomes matched by size, centromere position
  and banding pattern

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Down Syndrome Karyotype

• Trisomy 21
• 1 in 800 births in USA
• Intellectual disabilities
• Heart, vision, hearing defects common

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Turners Syndrome Karyotype

• One X chromosome missing in females
• 1 in 2,500 births worldwide
• Short stature, webbed neck, heart defects,
  sterility, normal intelligence common.

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Kleinfelters Syndrome Karyotype

• Extra X chromosome in males. (XXY)
• 1 of 1,000 males exhibit the disorder.
• Small testicles and sterility. Breast enlargement
  and feminine body characteristics.

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Metafemale Karyotype

• XXX
• 1 in 1000 live births.
• Limited fertility.
• Many show lower IQ scores and aggressive
  behavior.
• Few physical signs, but often tall.

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Pedigree Analysis

• Male
• Female
• Mating line
• Generations
• Inbreeding line
• Birth order

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Pedigree Charts - Autosomes

• Autosomal Recessive Trait appears when two
  parents by chance carry the hidden allele.

• Autosomal Dominant Trait appears in every
  generation