A patient with retinoblastoma has a single tumor i

Question 1 of 5

A patient with retinoblastoma has a single tumor in one eye; the other eye is free of tumors:

A. At least one of the parents is most probably affected with retinoblastoma B. The patient is more likely affected with heritable retinoblastoma C. The tumor formed in the patient during early infancy D. The patient is more likely affected with sporadic retinoblastoma

Correct Answer: D

Rationale: Unilateral, single-tumor retinoblastoma is typically sporadic (two somatic hits), not heritable (which often presents bilaterally or multifocally). Parents are unaffected in sporadic cases.

Question 2 of 5

Chromosomal analysis reveals a 47,XYY karyotype. Which of the following descriptions best fits this abnormality?

A. Autosomal trisomy B. A male with Klinefelter’s syndrome C. Sex chromosome aneuploidy D. A female with Turner’s syndrome

Correct Answer: C

Rationale: 47,XYY is an extra Y chromosome in a male (normal is 46,XY), classifying it as a sex chromosome aneuploidy.

Question 3 of 5

Several inherited disorders are much more common in close-knit religious communities, such as the Amish (Jews), than in the general population. This is at least partly due to the fact that:

A. people in such communities are more likely to marry relatives B. shared environmental conditions such as diet can increase mutation rate C. modern medical care is not widely available in such communities D. community members care for each other and disorders are passed on

Correct Answer: A

Rationale: Inbreeding (marrying relatives) increases the frequency of homozygous recessive disorders due to a higher chance of inheriting two copies of a rare allele.

Question 4 of 5

Human males are much more likely to be have hemophilia (a failure of blood to clot properly) than human females. This is the case because:

A. hemophilia is a contagious disease to which males are more susceptible B. the gene for hemophilia is carried on the Y chromosome C. hemophilia is carried on the autosomes D. the gene for hemophilia is sex-linked

Correct Answer: D

Rationale: Hemophilia is X-linked recessive. Males (XY) express it with one mutant allele, while females (XX) need two, making it rarer in females.

Question 5 of 5

Each cell in an individual with Down syndrome contains chromosomes:

A. 47 B. 22 C. 24 D. 45

Correct Answer: A

Rationale: Down syndrome is trisomy 21, resulting in 47 chromosomes (46 + extra 21).

A patient with retinoblastoma has a single tumor in one eye; the other eye is free of tumors:

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