Genetic Diseases

Cards (17)

  • This autosomal recessive disorder is tested for in most infants at birth. individuals with this disorder cannot consume a high protein diet or other food sources containing phenylalanine (amino acid)
    PKU
  • This multifactorial disease is characterized by abnormal behavior of hallucinations or paranoia. People often are prescribed anti-psychotic medications for this disorder.

    schizophrenia
  • This single gene recessive disease is characterized by excessive mucus in the lungs and a defective CFTR gene.

    Cystic Fibrosis
  • This process occurs when chromosomes fail to separate properly during meiosis which causes abnormal numbers of chromosomes in the sex cells
    nondisjunction
  • This single gene autosomal dominant (can be recessive as well) is characterized by multiple cysts in the kidneys and high blood pressure
    PKU (Polycystic Kidney Disease)
  • This mitochondrial disease is characterized by defects in the eye, heart, and brain. May be passed from mother to child or occur randomly.
    Kearns-Sayre Syndrome
  • This disease is caused by multiple repeats of the CGG sequence. It is a sex-linked disorder that affects the x chromosome and created mental difficulties.

    Fragile X Syndrome
  • What kind of food can people with PKU not eat?
    Protein or food containing phenylalanine
  • What causes Fragile X syndrome?

    Genetic mutation in the CCG gene
  • What kind of genetic disorder is Kearns-Sayre syndrome?

    Mitochondrial disorder
  • Symptoms of this multifactorial, polygenic disease include repeated infections and nosebleeds.
    Acute lymphocyte leukemia (ALL)
  • What carcinogens are recommended to avoid if you have ALL?

    Tobacco, smoking and radiation
  • This sex-linked disorder creates a problem with blood not clotting properly. Prevention includes injections of clotting factor in blood transfusions or medicine.

    Hemophilia
  • A random chromosomal abnormality causes a deletion on chromosome 15. Babies with this condition have difficulty feeding after birth.
    Prader-Willi syndrome
  • Connective tissue genetic disease that is autosomal dominant. Symptoms include heart murmurs, tallness and long fingers and toes
    Marfan syndrome
  • What are symptoms of Marfan Syndrome?

    Long fingers and toes, tallness and heart murmurs
  • What gene causes Cystic Fibrosis?

    CFTR gene