Option 1: A and C are correct

Ana: ‘I’d guess 1 and 3 are definitely visible, but single-gene mutations are probably too small to see on a karyotype.’

Dr. Antoniou: “That’s correct Ana. Let’s consider two key points about a karyotype:

• It can reveal large-scale structural changes—such as balanced translocations or inversions—that may exist without obvious clinical signs.

• It allows us to identify aneuploidies (an abnormal number of chromosomes), which might not be immediately apparent unless they lead to a distinct syndrome.
  But let’s explore what else might be visible or missed by karyotyping.’ 

This is what a normal karyotype of a male would look like.’

[She points to the poster on the wall.]

.

National Cancer Institute, https://commons.wikimedia.org/wiki/File:Karyotype_(normal).jpg

Let’s check the karyotype results from our patient: