Deck 6: Genetic and Pediatric Diseases

Question 1

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

A) Hunter syndrome
B) Hurler syndrome
C) cystic fibrosis
D) Marfan syndrome
E) galactosemia

Answer 1

galactosemia

Question 2

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?

A) Tay-Sachs disease
B) Niemann-Pick disease
C) Hurler disease
D) Gaucher disease
E) Hunter syndrome

Answer 2

Gaucher disease

Question 3

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

A) Young age (less than 1 year)
B) Near-diploid, rather than hyperdiploid or near-tetraploid, karyotype
C) Chromosome 1 deletion
D) Amplification of n-myc
E) Presence of double minutes or homogenously staining regions on chromosome 1

Answer 3

Young age (less than 1 year)

Question 4

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?

A) Type I (von Gierke disease)
B) Type II (Pompe disease)
C) Type III (Cori-Forbes' disease)
D) Type IV (Andersen disease)
E) Type V (McArdle disease)

Question 5

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

A) Retinoblastoma
B) Neuroblastoma
C) Hepatoblastoma
D) Wilms' tumor
E) Medulloblastoma

Question 6

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) Gonadal dysgenesis
B) Hermaphroditism
C) Male pseudohermaphroditism
D) Female pseudohermaphroditism
E) Turner syndrome

Question 7

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

A) Retinoblastoma
B) Neuroblastoma
C) Leukemia
D) Wilms' tumor
E) Medulloblastoma

Question 8

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

A) Tay-Sachs disease
B) Niemann-Pick disease
C) Huntington disease
D) Marfan syndrome
E) Turner syndrome

Question 9

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

A) Retrolental fibroplasia
B) Coloboma
C) Retinitis pigmentosa
D) Blepharitis
E) Keratomalacia

Question 10

Which hormone can suppress surfactant production in fetal lungs?

A) Cortisol
B) Estrogen
C) Insulin
D) Glucagon
E) Androgens

Question 11

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

A) Marfan syndrome
B) Achondroplastic dwarfism
C) Fanconi syndrome
D) Fragile X syndrome
E) Hemophilia B

Question 12

Chromosome 22q11 deletion is typically associated with

A) rocker-bottom feet
B) horseshoe kidneys
C) thymic hypoplasia
D) microphthalmia
E) simian crease on hands

Question 13

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

A) Acute lymphoblastic leukemia
B) Chronic lymphocytic leukemia
C) Chronic myelogenous leukemia
D) Plasmacytoma
E) Brain tumors

Question 14

The soft core of an aortic atheroma consists primarily of

A) triglycerides
B) cholesterol
C) free fatty acids
D) fibrin
E) pus

Question 15

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

A) synthesis
B) secretion
C) cross-linking
D) degradation
E) resorption

Question 16

Most teratomas in infants are located in the

A) cranium
B) mediastinum
C) gonads
D) retroperitoneum
E) sacrococcygeal region