Rely on physical traits

Michael: ‘Looking at the picture of our female patient she has several physical traits that commonly appear in people with Down’s Syndrome. She has a flattened facial profile, small ears, and upward-slanting eyelids. Although, not seen here she will probably have a low muscle tone and relatively short stature as well.’

Image by freepik

Dr. Antoniou: ‘You are right Michael; physical traits might give clues. However, they can’t confirm or exclude something like a balanced translocation. Let’s reconsider a more definitive test.’ 

 

Try again: 

  • Use only Mendelian probability
  • Order a karyotype

Map: CS13 - BIOSTATISTICS: INTRODUCTION TO PROBABILITIES (1061)
Node: 20018
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  • Rely on physical traits

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