AUTOSOMAL DOMINANT DISORDER

Question 1

AUTOSOMAL DOMINANT DISORDER

Answer 1

The clinical expression of a gene when one allele at a
given chromosome locus is mutant (heterozygous).

Question 2

Locus

Answer 2

← a unique chromosomal location defining the
position of an individual gene or DNA sequence

Question 3

Familial Hypercholesterolemia

Answer 3

causes LDL (bad) cholesterol level to be very high

The condition begins at birth and can cause heart
attacks at an early age

Question 4

Myotonic dystrophy

Answer 4

a type of muscular dystrophy (a group of long-term
genetic disorders that impair muscle function)

Question 5

Huntington’s disease (HD)

Answer 5

fatal genetic disorder that causes the progressive
breakdown of nerve cells in the brain

deteriorates a person’s physical and mental abilities
usually during their prime working years and has no cure

Question 6

Neurofibromatosis

Answer 6

genetic disorder that causes tumors to form on nerve
tissue

including your brain, spinal cord and nerves

usually diagnosed in childhood or early adulthood

Question 7

Polycystic kidney disease (PKD)

Answer 7

an inherited disorder in which clusters of cysts develop
primarily within your kidneys, causing your kidneys to
enlarge and lose function over time.

Question 8

Achondroplasia

Answer 8

a form of short-limbed dwarfism

“without
cartilage formation.”