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
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 café-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).
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