Genetic Disorders

Question 1

Cystic Fibrosis:

Answer 1

A genetic disorder that is present at birth and affects both the respiratory and digestive systems

Question 2

Down syndrome:

Answer 2

Also known as trisomy 21, is a genetic variation that is associated with a characteristic facial appearance, learning disabilities, developmental delays, and physical abnormalities such as heart valve disease.
(John Langdon Down- English Physician)

Question 3

Fragile X syndrome:

Answer 3

Caused by changes in MR1 gene that usually makes a protein needed for normal brain development. The condition is characterized by developmental delays, learning disabilities, and social and behavior problems.

Question 4

Hemophilia:

Answer 4

A hereditary bleeding disorder in which a blood-clotting factor is missing. This blood coagulation disorder, which mostly affects males, is characterized by spontaneous hemorrhages or severe bleeding following an injury

Question 5

Huntington’s Disease:

Answer 5

Genetic disorder passed form parent to child. Each child of parent with HD has 50-50 Change of inheriting single defective gene.
Nerve degeneration, symptoms most often appear midlife. –> uncontrolled movements, loss of some mental abilities and psychiatric disorders such as depression

Question 6

Marfan syndrome:

Answer 6

Disorder affecting connective tissue throughout the body including the heart, eye, blood vessels and musculoskeletal system. People often have tall, slender build and disproportionately long arms, legs, and fingers

Question 7

Muscular dystrophy:

Answer 7

Group of genetic diseases characterized by progressive weakness and degeneration of skeletal muscles that control movement

Question 8

Phenylketonuria:

Answer 8

Rare genetic disorder in which the essential digestive enzyme phenylalanine hydroxylase is missing. PKU can be detected by blood test in infants at birth. Careful dietary supervision to limit phenylalanine amino acids in food people can lead normal lives