A patient has been told that her unborn child will most likely have Down syndrome. The nurse realizes this diagnosis is consistent with which genetic finding?
1. trisomy
2. monosomy
3. translocation
4. deletions
Correct Answer: 1
Trisomy refers to the presence of a third or extra chromosome instead of the normal pair of a particular chromosome. The most common type of trisomy in infants is trisomy 21 or Down syndrome. Monosomy refers to the presence of only one chromosome instead of the normal pair of chromosomes. Translocation (chromosomal reshuffling) occurs when a segment of a chromosome transfers or moves and attaches itself to another chromosome. Structural rearrangements of chromosomes may result from deletions or loss of a chromosome segment or piece.
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