During the admission assessment, the nurse notes many café-au-lait spots on the patient's trunk, back, neck, and legs and suspects the patient has neurofibromatosis
The patient's chart confirms that the patient does have neurofibromatosis type 1. Based on the nurse's knowledge of neurofibromatosis, the nurse understands that a single family member has what?
A) A spontaneous mutation
B) A germline mutation
C) A nondisjunction
D) A monosomy
Ans: A
Feedback: Spontaneous mutations take place in individual oocytes or sperm at the time of conception. These mutations are not inherited in other family members. However, a person who carries the new "spontaneous" mutation may pass on the mutation to his or her children. Achondroplasia, Marfan syndrome, and neurofibromatosis type 1 are examples of genetic conditions that may occur in a single family member as a result of spontaneous mutation. Germline mutations are passed on to all daughter cells when body cells replicate. During meiosis, a pair of chromosomes may fail to separate completely, creating a sperm or oocyte that contains two copies or no copy of a particular chromosome. This sporadic event, called nondisjunction, can lead to either trisomy or a monosomy.
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