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Genetic Diseases and Chromosomes

Genetic Diseases and Chromosomes. Chromosome Disorders. A Chromosome is a structure of DNA and proteins that is found in cells All organisms inherit a specific number of chromosomes. Sex Determination. Gender is found on the 23 rd pair of chromosomes. Sex Determination. XX = Female

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Genetic Diseases and Chromosomes

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  1. Genetic Diseases and Chromosomes

  2. Chromosome Disorders A Chromosome is a structure of DNA and proteins that is found in cells All organisms inherit a specific number of chromosomes.

  3. Sex Determination • Gender is found on the 23rd pair of chromosomes

  4. Sex Determination • XX = Female • XY = Male • An egg can only have an X • A sperm can have an X or a Y • The egg will always provide the X and a sperm will bring it either an X or a Y. • If it brings another X, the offspring will be female. • If it brings a Y, the offspring will be a male.

  5. If a disease is inherited, it is caused by genes.

  6. Down’s Syndrome • Humans have 23 pairs of chromosomes • Sometimes extra copies of chromosomes can occur. • Down’s Syndrome, or Trisomy 21, is a genetic disorder occurs when an extra copy of chromosome # 21 is made. • Individuals with this are usually short, exhibit learning disabilities, and have heart problems. • They are specific in characteristics. See Photo.

  7. Other Genetic Disorders • Sickle-Cell Anemia • Blood disorder in which the red-blood cells are shaped abnormally (frequent bone pain) • Cystic Fibrosis • Lung disorder in which the lungs are coated with fluid making it difficult to breathe • Tay-Sachs Disease • Brain disorder in which a person can become blind, deaf, lose motor skills, and/or have speech disorders • Marfan Syndrome • Connective tissue disorder

  8. Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, chest abnormalities, curvature of the spine and a particular set of facial features including a highly arched palate, and crowded teeth. The most significant of the defects in the syndrome are cardiovascular abnormalities, which may include enlargement (dilatation) of the base of the aorta. Since Marfan syndrome is usually an inherited disorder, prospective parents with a family history of Marfan syndrome should get genetic counseling.

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