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ChapterPediatrics Genetic disorders

Down syndrome

Free notes, MCQs, tables & flowcharts for USMLE Step 3 Pediatrics

10Questions
10Flashcards
1Tables & Flowcharts

Sample Questions

1

A 32-year-old woman, gravida 2, para 1, at 14-weeks' gestation comes to the physician for a prenatal visit. Routine first trimester screening shows increased nuchal translucency, decreased β-hCG concentration, and decreased levels of pregnancy-associated plasma protein A. Amniocentesis shows trisomy of chromosome 13. This fetus is at increased risk for which of the following?

ADuodenal atresia

BCutis aplasia

CCystic hygroma

DOptic glioma

EProminent occiput

2

A 2-month-old baby boy and his mother present to his pediatrician for vaccination as per the immunization schedule. His mother denies any active complaints but mentions that he has not smiled yet. The boy was born at 39 weeks gestation via spontaneous vaginal delivery. His mother received minimal prenatal care. On physical examination, his vitals are stable, but a general examination shows the presence of generalized hypotonia. His face is characterized by upwardly slanting palpebral fissures, small dysplastic ears, and a flat face. His little fingers are short, with clinodactyly, and both palms have single palmar creases. The results of a karyotype are shown in the image. If this infant has also inherited a mutation in the GATA1 gene, for which of the following conditions is he most likely to be at increased risk?

AAcute megakaryoblastic leukemia

BCongenital hypothyroidism

CEndocardial cushion defect

DCeliac disease

ECongenital cataracts

3

A 37-year-old woman presents for prenatal counseling at 18 weeks gestation. The patient tells you that her sister recently had a child with Down's syndrome, and the patient would like prenatal screening for Down's in her current pregnancy. Which of the following prenatal screening tests and results would raise concern for Down's syndrome?

AIncreased AFP, normal HCG, normal unconjugated estriol

BDecreased AFP, decreased HCG, decreased unconjugated estriol

CNormal AFP, increased HCG, decreased unconjugated estriol

DNormal AFP, decreased HCG, decreased unconjugated estriol

EDecreased AFP, increased HCG, decreased unconjugated estriol

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