Down Syndrome (Trisomy 21)

A newborn presents with a flat facial profile, epicanthal folds, and a simian crease. Cytogenetic analysis reveals trisomy 21. Which of the following complications is this newborn MOST predisposed to developing later in life?

During a prenatal screening, a pregnant woman is found to have a fetus with increased nuchal translucency. A quadruple screen is performed. Which combination of results would be MOST indicative of Down syndrome?

A five-year-old child with Down syndrome presents with fatigue, pallor, and frequent infections. A complete blood count reveals pancytopenia and the presence of blast cells in the peripheral blood smear. Which of the following hematologic malignancies is MOST likely associated with these findings?

A researcher is investigating the genetic basis of Down syndrome in a family with a history of multiple affected individuals. Which of the following genetic mechanisms, while less common than others, could potentially explain the inheritance pattern observed in this family?

An expecting couple attends a genetic counseling session after receiving news that their fetus has a high probability of having Down syndrome based on prenatal screening. They want to understand the underlying cause of the condition. What explanation BEST describes the most common genetic etiology of Down syndrome?

A newborn is diagnosed with Down syndrome. Besides cardiac and intestinal defects, which ophthalmological finding is MOST commonly associated with this condition?

A researcher is investigating the correlation between the severity of cardiac defects in Down syndrome patients and specific genetic markers. Which of the following cardiac defects is MOST frequently observed in individuals with Down syndrome?

A neonatologist is examining a newborn suspected of having Down syndrome. Upon physical examination, which of the following features, if present, would be the LEAST specific indicator of Down syndrome and could be observed in the general population?

During a prenatal screening, a pregnant woman's blood sample indicates low levels of pregnancy-associated plasma protein A (PAPP-A) in the first trimester. How does this finding correlate with the risk assessment for chromosomal abnormalities, specifically Down syndrome, in the developing fetus?

A family brings their toddler, who has Down syndrome, for a routine check-up. The parents express concern about potential gastrointestinal issues, as they've read about complications associated with Trisomy 21. Which of the following gastrointestinal conditions should the pediatrician be MOST vigilant in screening for?