Pediatric Genetics Multiple Choice Questions

Front

How many total chromosomes are found in a normal human cell?

Back

46

Front

What is the chromosomal condition of the individual whose karyotype is seen in the image?

Back

Trisomy 18

Front

Which of the following best describes the autosomes in a human karyotype? A. The 23rd pair of chromosomes, B. Chromosomes that determine biological sex, C. The 22 pairs of chromosomes not involved in sex determination, D. Chromosomes found only in males

Back

The 22 pairs of chromosomes not involved in sex determination

Front

What is the correct karyotype notation for a typical human male?

Back

46XY

Front

Which term describes a congenital anomaly that has minimal cosmetic or functional significance?

Back

Minor anomaly

Front

Which chromosome is the largest in the human genome?

Back

Chromosome 1

Front

These are the chromosomes of someone with Kleinfelters syndrome. What is different about their chromosomes?

Back

There is an extra X chromosome

Front

A family with a history of consanguinity is at higher risk for which type of genetic disorder?

Back

Autosomal recessive

Front

What is the most common cause of death in individuals with Marfan Syndrome?

Back

Cardiac complications

Front

Which of the following conditions is most associated with hyperextensible skin and joint hypermobility? Ehlers-Danlos Syndrome, Marfan Syndrome, Turner Syndrome, Fragile X Syndrome

Back

Ehlers-Danlos Syndrome