Genetic & Chromosomal disorders & diseases
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Transcript of Genetic & Chromosomal disorders & diseases
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Genetic & Chromosomal disorders & diseases
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Sickle cell anemia
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Tay – Sachs Disease
Affects mostly people of Eastern European Jewish descent
Usually fatal by age 5.
Lipids coat the neurons & nerve cells
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Huntington’s Disease
Caused by a dominant allele
Brain degeneration, starts around 40 years old.
Affects about 1 out of every 10,000 people
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Muscular Dystrophy
Progressive degeneration & weakness of skeletal muscles.
Some are affected more severely than others.
Many forms of MD
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Down Syndrome – usually caused by trisomy of chromosome #21
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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.
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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.
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Miscellaneous Disorders
WARNING!!!Some pictures are graphic &
disturbing!!
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Cri Du Chat Syndrome
Caused by missing piece of chromosome 5.
High pitched “cat cry”
Weak muscle tone
Delayed development
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Cyclopia
• Sometimes caused by trisomy of #13.
• There are other issues as well.
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Turner’s syndrome
Missing X sex chromosome (monosomy of #23)
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Klinefelter’s Syndrome
Extra X sex chromosome (trisomy of #23)
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Trisomy of #3 with deletion