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Geneticists use a technique called Karyotyping. Scientists take a picture of chromosomes and then arrange them in pairs to end up with 22 chromosomes and another pair that determines sex; chromosome (X,X ) for female or (X,Y) for males.

Then you can determine mutation when some chromosomes are missing, ex: missing chromosome 13 will result in Patau Syndrome, or missing chromosome 18 results in Edward's Syndrome

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