Down syndrome’s characteristic phenotype is primarily due to:

A pedigree shows that only males are affected. The trait appears to “skip” generations, and no affected father ever passes it to his sons. What is the most likely mode of inheritance?

A child is suspected of having Fragile X syndrome. Which test is most appropriate for diagnosis?

Plasmodium falciparum is the species most commonly associated with life-threatening malaria. Malaria commonly affects the brain, spleen and _____.

Candida albicans infections are often present in all of the following cases scenarios, EXCEPT:

A 23-year-old tall male with pectus excavatum, upward lens dislocation, and aortic root dilation meets the revised Ghent criteria. Which gene is most likely mutated?

PCR can detect minute quantities of pathogen DNA and is more sensitive than FISH for identifying point mutations.

A 22-year-old woman presents with severe skin hyperextensibility, widened atrophic scars, and generalized joint laxity. Genetic testing reveals a COL5A1 mutation. Which subtype of Ehlers–Danlos syndrome is most consistent with these findings?

A newborn presents with hypotonia, single transverse palmar crease, upslanting palpebral fissures, Hirschsprung disease, and duodenal atresia. The underlying chromosomal abnormality is:

“Show the front and back of your whiteboard. No writing is permitted on either surface. Failure to do this step will result in a 10% reduction of your final exam score