choromosal & gene linked abnormalities

• Down Syndrome - Extra copy of chromosome 21 - Surgery, SPED
• Klinefelter Syndrome - Extra X Chromosome (XXY) - Hormone Therapy
• Fragile X Syndrome - Abnormality in X chromosome causes ID -SPED, Speech Therapy
• Turner Syndrome -Missing X chromosome for females -Hormone Therapy
• Cystic Fibrosis -Overproduction of mucus in the lungs and digestive tract -Physical Therapy
• Diabetes -Does not produce enough insulin -Insulin
• Hemophilia- Delayed blood clotting- Blood transfusions
• Huntington’s- CNS deteriorates producing problem in muscles and mental decline- NO TREATMENT
• Phenylketonuri -a Build up of Phenylalanine in the body -Special Diet/ no protein
• Sickle-Cell Anemia- Limits body oxygen supply- Penicillin, Antibiotics, Pain Reliever
• Spina Bifida- Incompletely closed spinal canal -Surgery
• Tay-Sachs Disease -Accumulation of lipids in the NS- Medication, Special Diet
• Anencephaly -Absence of brain tissue- No treatment
• Polycystic Kidney Disease- Enlarged Kidneys -Kidney Transplant
• Alpha antitrypsin Deficiency- Cirrhosis of the liver in early infancy- No treatment
• Alpha Thalassemia- Severe Anemia; nearly all die soon after birth -Frequent Blood Transfusion
• Beta Thalassemia (Cooley’s Anemia) -Severe Anemia; fatal in adolescence or Young adulthood- Blood Transfusion s
• Duchenne Muscular Dystrophy -Males with muscle weakness, minor mental retardation -No treatment
• Carriers carry one bad copy of a recessive gene and one good one
• Genotype-Environment Interaction refers to the effects of similar environmental conditions on genetically different individuals
• Genotype-Environment Correlation:

  • Environment often reinforces genetic differences
  • Passive Correlations: parents tend to provide an environment that encourages the development of a specific trait
  • Reactive or Evocative: children with differing genetic makeups evoke different reactions from others
  • Active: individuals actively select or create experiences consistent with their genetic tendencies
  • Niche-Picking: the tendency to seek out environments compatible with one’s genotype
• Nonshared Environmental Effects result from the unique environment in which each child in a family grows up
• Infertility is the inability to conceive a child
• In Vitro Fertilization involves eggs and sperm being combined in a laboratory dish