Which syndrome defined by trisomy 21 features mild to moderate intellectual disability, hearing loss, congenital heart anomalies, GI disease, and later risks of hypothyroidism and leukemia?

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Multiple Choice

Which syndrome defined by trisomy 21 features mild to moderate intellectual disability, hearing loss, congenital heart anomalies, GI disease, and later risks of hypothyroidism and leukemia?

This pattern points to Down syndrome, which arises from trisomy 21, an extra copy of chromosome 21. The clinical picture commonly includes mild-to-moderate intellectual disability, hearing loss from recurrent ear problems, congenital heart defects (often atrioventricular septal defects), and gastrointestinal issues such as duodenal atresia or other GI problems. As individuals with Down syndrome age, there is an increased risk of hypothyroidism and leukemia, particularly certain types of childhood leukemia. The other syndromes listed have different genetic causes and characteristic features, so they don’t fit this combination as well as Down syndrome does.

This pattern points to Down syndrome, which arises from trisomy 21, an extra copy of chromosome 21. The clinical picture commonly includes mild-to-moderate intellectual disability, hearing loss from recurrent ear problems, congenital heart defects (often atrioventricular septal defects), and gastrointestinal issues such as duodenal atresia or other GI problems. As individuals with Down syndrome age, there is an increased risk of hypothyroidism and leukemia, particularly certain types of childhood leukemia. The other syndromes listed have different genetic causes and characteristic features, so they don’t fit this combination as well as Down syndrome does.

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