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Randa, Bio100

  • VI.

    Chromosome Structure

    • A.

      Chromosomes have particular sizes and shapes in luenced by centromere position

    • B.

      Assessing normal chromosome number and structure karyotype

    • C.

      Abnormal chromosome structure

      • e.

        g., missing or additional parts of chromosomes inverted (flipped) or translocated parts

  • VII.

    Abnormal Chromosome Number

    • A.

      Polyploidy

extra complete sets of chromosomes

B. Aneuploidy extra or missing individual chromosomes

    • 1.

      Down syndrome: trisomy 21

    • 2.

      Turner’s syndrome: XO

    • 3.

      Triplo-X: XXX

    • 4.

      Klinefelter’s syndrome: XXY

    • 5.

      XYY

  • VII.

    Some Genetically Transmitted Diseases

Phenylketonuria (PKU)

Cystic fibrosis

Parkinson’s Disease

Sickle-cell Anemia

Tay-Sachs Disease

Huntington’s Disease

Hemophilia

4

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