NSG533 EXAM PREP 2026 QUESTIONS
AND ANSWERS HIGH YIELD STUDY
MATERIAL GRADED A+
◉ genomic imprinting.
Answer: - gene from mother or father may be imprinted (silenced)
- if allele from mother is imprinted, only allele from father will be
expressed
◉ examples of genomic imprinting.
Answer: 1. Prader-Willi Syndrome (paternal inheritance of deletion)
2. angelman syndrome (maternal inheritance of deletion)
◉ uniparental disomy.
Answer: Offspring receives 2 copies of a chromosome from 1 parent
and no copies from the other parent.
◉ types of chromosomal mutations (5).
Answer: 1. deletion
,2. duplication
3. inversion
4. substitution
5. translocation
◉ deletion.
Answer: type of chromosomal mutation in which there is an absence
of a segment of DNA (single base or entire gene)
◉ duplication.
Answer: type of chromosomal mutation in which there is a presence
of an extra segment of DNA (redundant copies)
◉ inversion.
Answer: type of chromosomal mutation in which a segment of
chromosome is inverted and reinserted in the chromosome at the
breakage site
◉ balanced inversion.
Answer: no net loss/gain of genetic chromosomal material (no
phenotypic abnormalities)
◉ unbalanced inversion.
, Answer: loss/gain of chromosomal material (will see abnormal
phenotype)
◉ substitution.
Answer: type of chromosomal mutation in which there is an
exchange of one base for another
◉ translocation.
Answer: type of chromosomal mutation in which a segment or
whole chromosome becomes attached with another chromosome
◉ balanced translocation.
Answer: no net gain/loss of genetic material (no phenotypic
abnormalities)
◉ unbalanced translocation.
Answer: gain/loss of genetic material (does show phenotypic
abnormality)
◉ penetrance.
Answer: proportion of individuals with a mutation who actually
exhibit the clinical symptoms (often autosomal dominant)
AND ANSWERS HIGH YIELD STUDY
MATERIAL GRADED A+
◉ genomic imprinting.
Answer: - gene from mother or father may be imprinted (silenced)
- if allele from mother is imprinted, only allele from father will be
expressed
◉ examples of genomic imprinting.
Answer: 1. Prader-Willi Syndrome (paternal inheritance of deletion)
2. angelman syndrome (maternal inheritance of deletion)
◉ uniparental disomy.
Answer: Offspring receives 2 copies of a chromosome from 1 parent
and no copies from the other parent.
◉ types of chromosomal mutations (5).
Answer: 1. deletion
,2. duplication
3. inversion
4. substitution
5. translocation
◉ deletion.
Answer: type of chromosomal mutation in which there is an absence
of a segment of DNA (single base or entire gene)
◉ duplication.
Answer: type of chromosomal mutation in which there is a presence
of an extra segment of DNA (redundant copies)
◉ inversion.
Answer: type of chromosomal mutation in which a segment of
chromosome is inverted and reinserted in the chromosome at the
breakage site
◉ balanced inversion.
Answer: no net loss/gain of genetic chromosomal material (no
phenotypic abnormalities)
◉ unbalanced inversion.
, Answer: loss/gain of chromosomal material (will see abnormal
phenotype)
◉ substitution.
Answer: type of chromosomal mutation in which there is an
exchange of one base for another
◉ translocation.
Answer: type of chromosomal mutation in which a segment or
whole chromosome becomes attached with another chromosome
◉ balanced translocation.
Answer: no net gain/loss of genetic material (no phenotypic
abnormalities)
◉ unbalanced translocation.
Answer: gain/loss of genetic material (does show phenotypic
abnormality)
◉ penetrance.
Answer: proportion of individuals with a mutation who actually
exhibit the clinical symptoms (often autosomal dominant)
