Assignment (part 1):
Identify the chromosome abnormalities
Instructions: Each of the karyograms below has a chromosome abnormality. Identify it
and answer each question for each karyogram.
A) What is the chromosome abnormality. Try to write it in correct cytogenetic
nomenclature (no points off if you get the nomenclature wrong).
B) Would you expect the patient to be able to live with this abnormality?
C) Is this abnormality consistent with a known syndrome? If so, what is it?
D) In a sentence or two, describe the clinical phenotype (if any) you would expect this
patient to have.
Note: have been placed where the chromosomes are NORMAL but may
look funny because of cross-overs or unusual bending. Ignore these spots –
they are NOT the abnormality you are looking for.
Hint: None of these abnormalities are subtle.
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