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