Chapter 2. Genomic Assessment: Interpreting Findings and Formulating Differential Diagnosis MULTIPLE CHOICE 1. The first step in the genomic assessment of a patient is obtaining information regarding: A. Family history B. Environmental exposures C. Lifestyle and behaviors D. Current medications ANS: A A critical first step in any health assessment is collecting and interpreting the family health history (FHH). FHH is key because it reflects shared genetic susceptibilities, shared environment, and common behaviors (Yoon, Scheuner, & Khoury, 2003). PTS: 1 2. An affected individual who manifests symptoms of a particular condition through whom a family with a genetic disorder is ascertained is called a(n): A. Consultand B. Consulband C. Index patient D. Proband ANS: D A proband is a family member who manifests symptoms of a particular condition and/or brings the family to medical attention (Bennett, 2010). PTS: 1 3. An autosomal dominant (AD) disorder involves the: A. X chromosome B. Y chromosome C. Mitochondrial DNA D. Non-sex chromosomes ANS: D AD inheritance is a result of a gene mutation in one of the 22 autosomes. PTS: 1
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