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What is a Karyotype ?

What is a Karyotype ?. Honors Biology Monkemeier/ Germinario. Karyotype. Pronunciation: “Carry” “o” “type” Also Known As: chromosome test, chromosome analysis

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What is a Karyotype ?

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  1. What is a Karyotype? Honors Biology Monkemeier/ Germinario

  2. Karyotype • Pronunciation: “Carry” “o” “type” • Also Known As: chromosome test, chromosome analysis • A karyotype is a picture of all the chromosomes from an individual’s cells. A karyotype is a test used to check for chromosome abnormalities

  3. What does a Karyotype Look Like?

  4. How is a Karyotype made? A picture of a person’s chromosomes is created by • staining the chromosomes with a special dye, • photographing them through a microscope and • arranging them in pairs from longest to shortest.

  5. What information can be obtained by analyzing a karyotype? • A karyotype gives information about the number of chromosomes a person has, the structure of their chromosomes and the sex of the individual.

  6. Abnormalities on Karyotype – Chromosome Numbers • Monosomy: Mono = one Somy = body • Monosomy: Only one chromosome is found on the line in the karyotype where a pair of chromosomes should be found.

  7. Monosomy Monosomy 13 Monosomy 23 or Turner’s Syndrome

  8. Trisomy – One chromosome too many on a line where a pair of chromosomes is expected.

  9. Abnormalities in Chromosome Numbers - Common • Down syndrome(trisomy 21): • Patau syndrome (trisomy 13): serious eye, brain, circulatory defects as well as cleft palate. 1:5000 live births. Children rarely live more than a few months. • Edward's syndrome (trisomy 18): almost every organ system affected 1:10,000 live births. Children with full Trisomy 18 generally do not live more than a few months.

  10. Abnormal Number of Chromosomes • Klinefelter syndrome: 47, XXY males. Male sex organs; unusually small testes, sterile. Breast enlargement and other feminine body characteristics. Normal intelligence. • 47, XYY males: Individuals are somewhat taller than average and often have below normal intelligence. At one time (~1970s), it was thought that these men were likely to be criminally aggressive, but this hypothesis did NOT stand up to testing and has been disproven over time.

  11. Abnormal Number of Chromosomes • Trisomy X: 47, XXX females. 1:1000 live births - healthy and fertile - usually cannot be distinguished from normal female except by karyotype • Monosomy X (Turner's syndrome): 1:5000 live births; the only viable monosomy in humans - women with Turner's have only 45 chromosomes!!! XO individuals are genetically female, however, they do not mature sexually during puberty and are sterile. Short stature and normal intelligence. (98% of these fetuses die before birth)

  12. Karyotypes also show abnormal chromosomes. • Crit du Chat is a disorder shown on a karyotype. Note that one of the chromosomes on pair number 5 is missing a piece.

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