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NR 605 / NR605 Final Exam | Questions & verified
Answers (Latest Update ) Diagnosis &
Management in Psychiatric-Mental Health Across the
Lifespan I Practicum | Grade A | 100% Correct –
Chamberlain
T/F: Single gene mutations are rare but highly penetrant
True!
Are also Mendelian disorders
T/F: Chromosomal abnormalities are uncommon and highly penetrant
True!
T/F: Complex multigenic disorders are uncommon
False!
They are common!
T/F: Diabetes, HT, and autoimmune diseases are complex multigenic disorders
True!
The sickle cell mutation affecting the beta-globin chain of hemoglobin is an example of what
type of mutation?
point mutation (amino acid subsitution)
T/F: Mutations in non-coding sequences can cause defective transcription and regulation
True!
T/F: A frameshift mutation occurs when a deletion or insertion is a multiple of three
False!
Occurs when the deletion or insertion is NOT a multiple of 3
What type of mutation is the incorporation of a variable number of incorrect amino acids
followed by truncation resulting from a premature stop codon?
A frameshift mutation
,T/F: Autosomal dominant disorders often have a delayed onset
True!
Autosomal dominant disorders usually result in...
reduced production or inactive protein (could be a structural protein like collagen or a
regulatory/transport protein like a receptor)
T/F: Autosomal dominant disorders are only manifested in the homozygous state
False!
They are seen in heterozygous and homozygous duhh
Autosomal dominant disorders have ____ penetrance and ____ expressivity
reduced penetrance and variable expressivity
If both parents are carriers for an autosomal recessive disorder, each sibling has a ___% chance
of being affected
25%
Autosomal recessive disorders have ____ penetrance and ____ expressivity
complete penetrance and uniform expressivity
______ means the gene or genes for a trait are expressed in all the population who have the
genes
Complete penetrance
_____ refers to the degree that a particular genotype is expressed as a phenotype within an
individual
Expressivity
T/F: The onset for autosomal recessive disorders is often delayed
False!
Onset is usually early in life
Autosomal recessive disorders often affect...
enzymes
X-linked disorders only affect...
Males
T/F: Most X-linked disorders are recessive
True!
, Example = hemophilia or G6PD deficiency
T/F: If a father has an X-linked disorder, all of his daughters will be carriers
True!
Single gene mutations can cause enzyme defects which can lead to...
accumulation of substrate, lack of product, or failure to inactivate a protein which causes damage
Marfan syndrome is the result of a ____ defect
Fibrillin-1
Autosomal dominant disorder
70-80% of cases are familial
What are some key features of Marfan syndrome?
- long, tall extremities, elongated digits (arachnodactyly)
- bilateral dislocation of the lens of the eye
- aorta aneurysm/dissection
- floppy mitral valve sydrome
T/F: Floppy mitral valve syndrome is associated with Marfan syndrome and can lead to cardiac
failure
True!
What is the most typical cause of death for an individual with Marfan syndrome?
aortic aneurysm/dissection
What is the molecular basis of Ehler's-Danlos syndrome?
deficient collagen synthesis
90% of cases involve deficient synthesis of type V collagen
Hyperextensible skin and hyperflexible joints are characteristics of what disorder?
Ehler's Danlos Syndrome
T/F: Ehler's-Danlos can cause blindness and diaphragmatic hernia
True!
Familial hypercholesterolemia can result in early-onset...
atherosclerosis
NR 605 / NR605 Final Exam | Questions & verified
Answers (Latest Update ) Diagnosis &
Management in Psychiatric-Mental Health Across the
Lifespan I Practicum | Grade A | 100% Correct –
Chamberlain
T/F: Single gene mutations are rare but highly penetrant
True!
Are also Mendelian disorders
T/F: Chromosomal abnormalities are uncommon and highly penetrant
True!
T/F: Complex multigenic disorders are uncommon
False!
They are common!
T/F: Diabetes, HT, and autoimmune diseases are complex multigenic disorders
True!
The sickle cell mutation affecting the beta-globin chain of hemoglobin is an example of what
type of mutation?
point mutation (amino acid subsitution)
T/F: Mutations in non-coding sequences can cause defective transcription and regulation
True!
T/F: A frameshift mutation occurs when a deletion or insertion is a multiple of three
False!
Occurs when the deletion or insertion is NOT a multiple of 3
What type of mutation is the incorporation of a variable number of incorrect amino acids
followed by truncation resulting from a premature stop codon?
A frameshift mutation
,T/F: Autosomal dominant disorders often have a delayed onset
True!
Autosomal dominant disorders usually result in...
reduced production or inactive protein (could be a structural protein like collagen or a
regulatory/transport protein like a receptor)
T/F: Autosomal dominant disorders are only manifested in the homozygous state
False!
They are seen in heterozygous and homozygous duhh
Autosomal dominant disorders have ____ penetrance and ____ expressivity
reduced penetrance and variable expressivity
If both parents are carriers for an autosomal recessive disorder, each sibling has a ___% chance
of being affected
25%
Autosomal recessive disorders have ____ penetrance and ____ expressivity
complete penetrance and uniform expressivity
______ means the gene or genes for a trait are expressed in all the population who have the
genes
Complete penetrance
_____ refers to the degree that a particular genotype is expressed as a phenotype within an
individual
Expressivity
T/F: The onset for autosomal recessive disorders is often delayed
False!
Onset is usually early in life
Autosomal recessive disorders often affect...
enzymes
X-linked disorders only affect...
Males
T/F: Most X-linked disorders are recessive
True!
, Example = hemophilia or G6PD deficiency
T/F: If a father has an X-linked disorder, all of his daughters will be carriers
True!
Single gene mutations can cause enzyme defects which can lead to...
accumulation of substrate, lack of product, or failure to inactivate a protein which causes damage
Marfan syndrome is the result of a ____ defect
Fibrillin-1
Autosomal dominant disorder
70-80% of cases are familial
What are some key features of Marfan syndrome?
- long, tall extremities, elongated digits (arachnodactyly)
- bilateral dislocation of the lens of the eye
- aorta aneurysm/dissection
- floppy mitral valve sydrome
T/F: Floppy mitral valve syndrome is associated with Marfan syndrome and can lead to cardiac
failure
True!
What is the most typical cause of death for an individual with Marfan syndrome?
aortic aneurysm/dissection
What is the molecular basis of Ehler's-Danlos syndrome?
deficient collagen synthesis
90% of cases involve deficient synthesis of type V collagen
Hyperextensible skin and hyperflexible joints are characteristics of what disorder?
Ehler's Danlos Syndrome
T/F: Ehler's-Danlos can cause blindness and diaphragmatic hernia
True!
Familial hypercholesterolemia can result in early-onset...
atherosclerosis
