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Elsevier's Integrated Review Genetics

Linda R. Adkison

Chapter 10

Renal, Gastrointestinal, and Hepatic Disorders - all with Video Answers

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Chapter Questions

Problem 1

A newborn infant has multiple anomalies, including aplastic left radius and thumb, thoracic scoliosis, fusion of ribs on left thoracic and lumber region vertebrae, esophageal stricture, anal atresia, and renal dysplasia corresponding to the VACTERL association. The mother had taken lovastatin $(10 \mathrm{mg} /$ day) for 11 weeks after her last menstrual cycle before she learned she was pregnant. Which of the following best describes this infant's renal and anal anomalies (see Box 10-3)?
A. Deformation
B. Disruption
C. Malformation
D. Sequence
E. Syndrome

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Problem 2

Two hundred unrelated patients with cystinuria previously diagnosed on the basis of urine excretion of cystine were invited to participate in a study of the disease. Genes involved with absorption of cysteine and other dibasic amino acids were analyzed for mutations. Data revealed few individuals with type A cystinuria. Most individuals had type B cystinuria and among those, one allele was present in $70 \%$ of the individuals. Which of the following is best reflected by these data?
A. Deformation
B. Disruption
C. Founder effect
D. Sequence
E. Syndrome

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