Jr Med students 2023

What is the term to describe a karyotype with 47 chromosomes?

• aneuploidy

• monosomy

• disomy

• triploidy

If the two alleles at a particular gene locus are identical, this is called...

• heterozygosity

• haplotype

• homozygosity

• monogenic

Adult-onset diabetes and spina bifida are examples of which term?

• co-dominance

• multifactorial

• pleiotropy

• polyallelic

An unaffected couple has a child with SMA. What is the risk they will have another liveborn with the condition?

• 100%

• 2/3 (66%)

• 1/2 (50%)

• 1/4 (25%)

The best test to identify a deletion/duplication of genetic info, if no specific diagnosis is suspected, is?

• karyotype

• FISH

• whole genome sequencing

• microarray

A couple with achondroplasia have an affected son. What is the risk they will have another liveborn with the condition?

• 100%

• 2/3 (66%)

• 1/2 (50%)

• 1/4 (25%)

Cystic fibrosis, sickle cell disease, and galactosemia are inherited in what fashion?

• autosomal dominant

• autosomal recessive

• X-linked recessive

• X-linked dominant

An unaffected couple have a son with G6PD. What is the risk they will have another liveborn with the condition?

• 100%

• 2/3 (66%)

• 1/2 (50%)

• 1/4 (25%)