Genetics Quiz#29 Autosomal Trisomies


1. A newborn girl is evaluated for developmental delay and hypotonia. On physical examination, she has a flat facial profile, slanted palpebral fissures, and a single palmar crease. An image of a patient exhibiting the same condition is shown. A karyotype analysis is performed. Which of the following chromosomal abnormalities is most likely to be found in this patient? 

Question 1 of 5

2. A newborn boy presents with low-set ears, a clenched hand with overlapping fingers, and a small jaw. The infant also has a prominent occiput. Which of the following is the most likely diagnosis? 

Question 2 of 5

3. An infant is noted to have microphthalmia, polydactyly, and cleft lip and palate. The infant also exhibits holoprosencephaly. Chromosomal analysis is most likely to reveal which of the following? 

Question 3 of 5

4. A pregnant woman's ultrasound at 18 weeks gestation shows a fetus with duodenal atresia and a cardiac defect. Further genetic testing is most likely to reveal which of the following? 

Question 4 of 5

5. A newborn is diagnosed with a chromosomal abnormality characterized by severe intellectual disability, rocker-bottom feet, and a heart defect. An image of a patient with a similar condition is shown. Which of the following genetic syndromes does the newborn most likely have? 

Question 5 of 5


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