Exam 6: Genetic and Pediatric Diseases

Which is the most common solid malignant tumor in children younger than the age of 1 year?

Which one of the following parameters portends a good prognosis in patients with neuroblastoma?

Most teratomas in infants are located in the

Mutation of the gene for lysyl hydroxylase in the kyphoscoliosis type Ehlers-Danlos syndrome (ED type VI) causes weakness of bones and cutis laxa because of abnormal collagen

Which hormone can suppress surfactant production in fetal lungs?

Chromosome 22q11 deletion is typically associated with

Overall, which of the following is the most common malignancy found in children younger than 4 years of age?

Which disease is caused by prolonged exposure of premature infants to oxygen at a high concentration?

The soft core of an aortic atheroma consists primarily of

Which of the following diseases is caused by a trinucleotide repeat mutation?

Which malignancy occurs at a high rate in persons affected with Down syndrome?

In which of the following Mendelian disorders is the age of onset delayed and the symptoms of the disease do not appear before adulthood?

Neonatal vomiting and diarrhea and failure to thrive, combined with jaundice, hepatomegaly, early development of cataracts, and mental retardation, suggest the diagnosis of

An infertile woman was examined cytogenetically and was found to have deletions of portions of the long arm and short arm of the chromosome X, resulting in a ring chromosome, 46,X,r(X). Which of the following is the most likely diagnosis?

A 7-year-old child complained of frequent muscle cramps during play. A muscle biopsy revealed accumulation of glycogen in the skeletal muscle cells and a lack of muscle phosphorylase. Which form of glycogenosis is this?

Splenomegaly and skeletal changes due to a nonlethal lysosomal storage disease caused by the mutation of the gene encoding glucocerebrosidase are features of which disease?