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Alexander Hayden
on Oct 23, 2024

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Mrs. Frantello brings her 3-year-old son David to the office because he seems a little behind other children his age. David has a rather long face with large ears. The physician orders tests for David to rule out fragile X syndrome. While she is in the office, she informs the physician that she is pregnant again. What test would you expect the physician to consider for Mrs. Frantello?

A) Prothrombin time (clotting factor)
B) Amniocentesis
C) Phenylalanine concentration
D) Complete blood count (CBC)
E) Thyroid levels (T3 and T4)

Fragile X Syndrome

A genetic disorder characterized by intellectual disability, behavioral challenges, and various physical features, caused by mutations in the FMR1 gene.

Amniocentesis

A medical procedure in which a small amount of amniotic fluid is sampled from the amniotic sac to test for fetal abnormalities.

  • Recognize prevalent genetic conditions and their observable traits.
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nuttapimon kondokOct 25, 2024
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