Which of the following would be considered a red flag that ...

[Haya94]

Which of the following would be considered a red flag that requires more investigation in a patient assessment?
 
  A. Colon cancer in family member at age 70
  B. Breast cancer in family member at age 75
  C. Myocardial infarction in family member at age 35
  D. All of the above

Question 2

When patients express variable forms of the same hereditary disorder, this is due to:
 
  A. Penetrance
  B. Aneuploidy
  C. De novo mutation
  D. Sporadic inheritance

[dantucker]

Answer to Question 1

ANS: C
Early onset cancer syndromes, heart disease, or dementia are red flags that warrant further investigation regarding hereditary disorders.

Answer to Question 2

ANS: A
Some disorders have a range of expression from mild to severe. This variability is referred to as the penetrance of genetic disease. For example, patients with neurofibromatosis (NF1), an AD disorder of the nervous system, may manifest with many forms of the disease. For instance, some patients with NF1 may have mild symptoms, like caf-au-lait spots or freckling on the axillary or skin, while others may have life-threatening spinal cord tumors or malignancy (Jorde, Carey, & Bamshad 2010; Nussbaum et al. 2007).