Genetic Disorders — MCQs

Which of the following translocations is not associated with Down syndrome?

Prader-Willi syndrome and Angelman syndrome are examples of what genetic phenomenon?

Inheritance of Huntington's disease is

An affected male does not have affected children but an affected female always has affected children. Type of inheritance?

Kinky hair disease is a disorder where an affected child has peculiar white stubby hair, does not grow, brain degeneration is seen and dies by age of two years. Mrs A is hesitant about having children because her two sisters had sons who died from kinky hair disease. Her mother's brother also died of the same condition. Which of the following is the possible mode of inheritance in her family?

Number of chromosomes in Klinefelter syndrome:

A teenage girl presents with a history of amenorrhea. Local examination is shown in the image. What karyotype analysis would you consider for further evaluation?

Which one of the following is an autosomal recessive disorder?

What is the type of inheritance in MELAS?

A 29-year-old man sustains a left femoral fracture in a motorcycle accident. His leg is placed in a plaster cast. After his left leg has been immobilized for 6 weeks, the diameter of the left calf has decreased in size. This change in size is most likely to result from which of the following alterations in his calf muscles?