Module 4: Family History Applications & Red Flags

Question 1

If someone has an earlier onset of a disease than expected, what does that tell us?

Answer 1

• It suggests a genetic component or predisposition

- Especially important in cancer and heart disease

Question 2

Abnormalities in growth is an example of:

Answer 2

-Single gene disorder that can affect metabolism or bone growth

Question 3

Recurrent pregnancy losses (2+) suggests:

Answer 3

• A balanced chromosome translocation in one of the parents
• Results in too much or too little genetic info in conception
• Healthy pregnancy possible w/ embryo testing

Question 4

Consanguinity

Answer 4

The increased chance of a recessive condition caused by reproduction between blood relatives

Question 5

What is one non-genetic reason for a family to have multiple members with the same health condition?

Answer 5

They have common environmental exposures and lifestyle

Question 6

Why is the presentation of a common disease in the less-often-affected gender a genetic red flag?

Answer 6

These conditions (ex: breast cancer in men) are difficult to express with environmental exposures alone

Question 7

What information below is most helpful in determining environmental risk factors for a child with a major birth defect?

Answer 7

Prenatal History

Question 8

What is the most common red flag for a balanced chromosome translocation?

Answer 8

Recurrent pregnancy loss

Question 9

What can be identified with a 3 generation family history?

Answer 9

• Single gene disorder
• Ethnic based genetic risk factors
• Multifactorial disease genetic predispositions