During the admission assessment, the nurse notes many café-au-lait spots on the patient's trunk, back, neck, and legs and suspects that the patient has neurofibromatosis
Based on the nurse's knowledge of neurofibromatosis, the nurse understands that a single family member has which of the following?
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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