You are a physician, who has been given a male infant with severe brain and spin
ID: 92733 • Letter: Y
Question
You are a physician, who has been given a male infant with severe brain and spinal chord abnormalities, extra fingers, a cleft lip and poorly developed eyes. You surmise that this infant may have Patau’s syndrome, which is characterized by 3 copies of chromosome 13. Based on the information given, please answer the questions below.
a. (1 point) Please state which possible experimental technique(s) in genetics you could use to definitely diagnose this infant with trisomy 13.
b. (1 point) You perform one of these techniques using a probe to chromosome 13, which is labeled red. As a control, you use a green-labeled probe that recognizes the X-chromosome. How many red spots will you see? How many green spots will you see?
Explanation / Answer
a. Poseidon chromosome 13/21 specific DNA probes could be used as an experimental technique in genetics for diagnosing trisomy 13.
b. The Poseidon Assay is a dual colour assay. In Trisomy 13 we will find three red spots (3 signals for chromosome 13) and one green spot (1 signal for single normal X chromosome)
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