Genetic Diseases

Question 1

Define mode of inheritance

Answer 1

Pattern in which disease or genetic trait is inherited through generations of the family

Question 2

Define occurrence

Answer 2

The probability expressed in a fraction or decimal, that a child of a genetically at risk parent or parents will either have the genetic disease or be a carrier of a bad gene

Question 3

Define recurrence

Answer 3

Probability that subsequent children, born to parents who already have one child with the disease, will also have the disease

Question 4

Define penetrance

Answer 4

Percentage of those whose genetic structure indicates they have a genetic disease that actually shows signs of having the disease

Question 5

Expressivity

Answer 5

In a patient with a genetic disease, the degree to which the disease manifests itself (signs and symptoms)

Question 6

Define delayed age of onset

Answer 6

Genetic diseases that do not cause detectable signs or symptoms until the age of +/- 40 years old.

Question 7

Define consanguinity

Answer 7

Mating between closely related individuals.

Question 8

Define sex limited disease

Answer 8

Genetic disease that can only manifest signs and symptoms in one gender because of physical structure

Question 9

Define sex influenced disease

Answer 9

Genetic disorders that can occur in both genders but is much more prevalent in one gender or the other.

Question 10

What does autosomal mean?

Answer 10

The bad gene is found on one of the non-sex chromosomes

Question 11

What does x-linked mean?

Answer 11

The diseased or “bad” gene is located on the X chromosome on one or the other parent or both