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Genetic & Chromosomal disorders & diseases

This overview explores various genetic and chromosomal disorders, including Sickle Cell Anemia, Tay-Sachs Disease, Huntington's Disease, Muscular Dystrophy, Down Syndrome, Cystic Fibrosis, and Phenylketonuria (PKU). Each condition has unique causes, symptoms, and challenges, affecting individuals differently. From the severe impacts of Tay-Sachs primarily in Eastern European Jewish populations to the progressive nature of Huntington's Disease, we delve into how these disorders affect life expectancy and quality of life. Early diagnosis and treatment options can significantly improve outcomes for many patients.

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Genetic & Chromosomal disorders & diseases

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  1. Genetic & Chromosomal disorders & diseases

  2. Sickle cell anemia

  3. Tay – Sachs Disease Affects mostly people of Eastern European Jewish descent Usually fatal by age 5. Lipids coat the neurons & nerve cells

  4. Huntington’s Disease Caused by a dominant allele Brain degeneration, starts around 40 years old. Affects about 1 out of every 10,000 people

  5. Muscular Dystrophy Progressive degeneration & weakness of skeletal muscles. Some are affected more severely than others. Many forms of MD

  6. Down Syndrome – usually caused by trisomy of chromosome #21

  7. Cystic Fibrosis Formation of thick sticky mucuc that blocks respiration & digestive functions. Meds & treatment available, most people affected do not live past 40 years old. Usually have many respiratory infections and difficulty breathing.

  8. PKU Every state tests for this trait. Treatable with diet changes. Missing or ineffective enzyme for breaking down phenylalanine. Can cause brain damage & other problems if untreated.

  9. Miscellaneous Disorders WARNING!!! Some pictures are graphic & disturbing!!

  10. Cri Du Chat Syndrome Caused by missing piece of chromosome 5. High pitched “cat cry” Weak muscle tone Delayed development

  11. Cyclopia • Sometimes caused by trisomy of #13. • There are other issues as well.

  12. Turner’s syndrome Missing X sex chromosome (monosomy of #23)

  13. Klinefelter’s Syndrome Extra X sex chromosome (trisomy of #23)

  14. Trisomy of #3 with deletion

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