Genetic Disorders

Down’s Syndrome Disorder caused by trisomy of chromosome pair #21. Autosomal disorder Extra genetic information interferes with physical and mental development.

Duchenne Muscular Dystrophy X-linked recessive disorder. Caused by a mutation in the gene for the protein dystrophin. Causes muscles to degenerate.

Color Blindness X-linked recessive disorder. Inability to see specific colors. Several types exist, all involve a deficiency in one or more of the pigments needed for color vision.

Normal view Color blind

Cystic Fibrosis Autosomal recessive disorder caused by a mutation in a gene that helps water move into tissues. Causes a thick, sticky mucous that clogs airways and glands.

Sickle Cell Disease Autosomal recessive disorder caused by a mutation in the gene for hemoglobin (protein used to carry oxygen in red blood cells). Shape of red blood cells may be distorted under some conditions (become sickle-shaped). Abnormal cells may die prematurely (causes anemia) or get stuck in blood vessels.

Huntington’s Disease Autosomal dominant disorder (on chromosome #4) Causes nerve degeneration. Symptoms do not appear until middle age.