Complete the following sentence. The Philadelphia

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Complete the following sentence. The Philadelphia chromosome (associated with chronic myelogenous leukemia):

A. is an example of gene amplification B. is a product of a reciprocal translocation C. causes Burkitt’s lymphoma D. causes retinoblastoma

Correct Answer: B

Rationale: The Philadelphia chromosome is a t(9;22) reciprocal translocation creating BCR-ABL.

The most common chromosome abnormality in first trimester spontaneous miscarriages is:

A. trisomy B. monosomy C. triploidy D. tetrasomy

Correct Answer: A

Rationale: Trisomy (e.g., trisomy 16) is the most common chromosomal cause of early miscarriage.

Autozygosity mapping is used to map disorders that show which pattern of inheritance?

A. Autosomal dominant B. Autosomal recessive C. X-linked dominant D. X-linked recessive

Correct Answer: B

Rationale: Autozygosity mapping identifies homozygous regions in consanguineous families, typical for autosomal recessive disorders.

Mutations that cause achondroplasia exert an effect, which can be classified as:

A. Dominant negative B. gain-of-function C. haploinsufficiency D. loss-of-function

Correct Answer: B

Rationale: Achondroplasia (FGFR3 mutation) is a gain-of-function mutation, increasing receptor activity.

The maternal serum level of alpha-fetoprotein (AFP) is lower than average in which situation?

A. Down syndrome B. Exomphalos C. Neural tube defects D. Twin pregnancies

Correct Answer: A

Rationale: Low maternal AFP is associated with Down syndrome; high AFP occurs with NTDs, exomphalos, or twins.

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