MSN 622 MIDTERM (GU, Gender health,
Genetics, Renal) exam with verified answers
1. 1. Which diagnostic study may be ordered when the provider wishes to detect
| | | | | | | | | | | |
| the |presence |of |additional |genetic |material |on |a |chromosome?
a. Chromosomal microarray |
b. FISH
c. Karyotype
d. Molecular testing: ANS: B | | |
Fluorescence in-situ hybridization is used to locate and detect a specific area of
| | | | | | | | | | | |
a particular chromosome, including subtle missing, additional, or rearranged
| | | | | | | |
| chro- mosomal material. Chromosomal microarray is used to detect micro-
| | | | | | | | |
deletions or duplications in any of the chromosomes but not specific gene
| | | | | | | | | | |
mutations.Karyotype testingisusedtoidentifyand evaluate thesize,shape,and
| | | | | | | | | | | | |
number ofchromosomes. Molecular testing is used to detect specific single
| | | | | | | | | | |
| gene mutations.
|
2. What is an important responsibility of the primary care pediatric nurse
| | | | | | | | | |
| practitioner |to |help |determine |genetic |risk |factors |in |families?
a. Assessing physical characteristics of genetic disorders
| | | | |
b. Knowing which genetic screening tests to perform
| | | | | |
c. Making appropriate referrals to pediatric geneticists
| | | | |
d. Obtaining a three-generation pedigree for each family: ANS: D
| | | | | | | |
1 |/ |112
,In primary care practice, taking the time to collect a child's family health history and
| | | | | | | | | | | | | |
| pedigree can be just as important as information from a laboratory test and gives
| | | | | | | | | | | | |
| useful information about possible genetic disorders present in a family.The other
| | | | | | | | | | |
| skills are necessary if there is concern that a genetic disorder exists.
| | | | | | | | | | |
3. 3. Which type of mutation is responsible for many single-gene genetic
| | | | | | | | | |
| disorders?
a. Copy number variations | |
b. Nucleotide repeat expansions | |
c. Point mutations |
d. Single nucleotide polymorphisms (SNP): ANS: C
| | | | |
Point mutations are single base pair changes capable of changing the function of a
| | | | | | | | | | | | |
| gene or gene product.Copy number variations involve larger areas of chromosomes
| | | | | | | | | | |
beyond point mutations and provide the genetic basis for many psycho-
| | | | | | | | | | |
behavioral diseases.Nucleotide repeat expansions occur beyond single point
| | | | | | | |
changes;genetic changes occur when the number of repeats increases beyond
| | | | | | | | | | |
| the tolerated limit.
| |
SNPs are alterations that contribute to multifactorial disorders.
| | | | | | |
4. 4. Cystic fibrosis is a recessive disease requiring the presence of a gene
| | | | | | | | | | | |
| mutation |on |both |alleles |inherited |from |the |parents.|Which |type |of |genetic
| disorder |is |this?
a. Chromosome
2 |/ |112
,b. Mitochondrial
3 |/ |112
, c. Monogenetic
d. Multifactorial: ANS: C | |
Monogenetic disorders occur when the mutation affects a single gene; recessive diseases are on
| | | | | | | | | | | | |
| type of monogenetic disorder. Chromosome disorders occur with changes in thenumber or structu
| | | | | | | | | | | | |
of an entire chromosome or large segments of it. Mitochondrial disorders are rare and are related to
| | | | | | | | | | | | | | | | |
|mutations in the genetic material found in the mitochondria and not the chromosomes. Multifactori
| | | | | | | | | | | | |
| disorders are caused by mutations that may have inherited and environmental causes.
| | | | | | | | | | |
5. 5. Which type of testing will the primary care pediatric nurse practitioner recommend for a couple
| | | | | | | | | | | | | | |
| concerned |about |the |potential |for |having |children |with |cystic |fibrosis?
a. Biochemical testing |
b. Carrier testing |
c. FISH testing |
d. Karyotype testing: ANS: B | | |
Carrier testing is used to detect the presence of a carrier state by detecting whether each has one co
| | | | | | | | | | | | | | | | | |
| of a gene mutation known to cause a specific disorder caused when two copies are present.
| | | | | | | | | | | | | | |
|Biochemical testing is used to study the amount, activity level, or structure of proteins and enzyme
| | | | | | | | | | | | | | |
| that result from gene mutations. FISH testing is used to locate and detect a specific area of a
| | | | | | | | | | | | | | | | |
| particular chromo- some, including subtle missing, additional, or rearranged chromosomal
| | | | | | | | |
| material.
Karyotype testing is used to identify and evaluate the size, shape, and number of chromosomes.
| | | | | | | | | | | | | |
6. 6.Afamilymedical historyconducted during a well babyexam for a newborn girl reveals that hemophilia
| | | | | | | | | | | | | | | | |
| A, |an |X-linked |recessive |disorder, |is |present |in |males |in |three |previous |generations |in |the |mother's
4 |/ |112
Genetics, Renal) exam with verified answers
1. 1. Which diagnostic study may be ordered when the provider wishes to detect
| | | | | | | | | | | |
| the |presence |of |additional |genetic |material |on |a |chromosome?
a. Chromosomal microarray |
b. FISH
c. Karyotype
d. Molecular testing: ANS: B | | |
Fluorescence in-situ hybridization is used to locate and detect a specific area of
| | | | | | | | | | | |
a particular chromosome, including subtle missing, additional, or rearranged
| | | | | | | |
| chro- mosomal material. Chromosomal microarray is used to detect micro-
| | | | | | | | |
deletions or duplications in any of the chromosomes but not specific gene
| | | | | | | | | | |
mutations.Karyotype testingisusedtoidentifyand evaluate thesize,shape,and
| | | | | | | | | | | | |
number ofchromosomes. Molecular testing is used to detect specific single
| | | | | | | | | | |
| gene mutations.
|
2. What is an important responsibility of the primary care pediatric nurse
| | | | | | | | | |
| practitioner |to |help |determine |genetic |risk |factors |in |families?
a. Assessing physical characteristics of genetic disorders
| | | | |
b. Knowing which genetic screening tests to perform
| | | | | |
c. Making appropriate referrals to pediatric geneticists
| | | | |
d. Obtaining a three-generation pedigree for each family: ANS: D
| | | | | | | |
1 |/ |112
,In primary care practice, taking the time to collect a child's family health history and
| | | | | | | | | | | | | |
| pedigree can be just as important as information from a laboratory test and gives
| | | | | | | | | | | | |
| useful information about possible genetic disorders present in a family.The other
| | | | | | | | | | |
| skills are necessary if there is concern that a genetic disorder exists.
| | | | | | | | | | |
3. 3. Which type of mutation is responsible for many single-gene genetic
| | | | | | | | | |
| disorders?
a. Copy number variations | |
b. Nucleotide repeat expansions | |
c. Point mutations |
d. Single nucleotide polymorphisms (SNP): ANS: C
| | | | |
Point mutations are single base pair changes capable of changing the function of a
| | | | | | | | | | | | |
| gene or gene product.Copy number variations involve larger areas of chromosomes
| | | | | | | | | | |
beyond point mutations and provide the genetic basis for many psycho-
| | | | | | | | | | |
behavioral diseases.Nucleotide repeat expansions occur beyond single point
| | | | | | | |
changes;genetic changes occur when the number of repeats increases beyond
| | | | | | | | | | |
| the tolerated limit.
| |
SNPs are alterations that contribute to multifactorial disorders.
| | | | | | |
4. 4. Cystic fibrosis is a recessive disease requiring the presence of a gene
| | | | | | | | | | | |
| mutation |on |both |alleles |inherited |from |the |parents.|Which |type |of |genetic
| disorder |is |this?
a. Chromosome
2 |/ |112
,b. Mitochondrial
3 |/ |112
, c. Monogenetic
d. Multifactorial: ANS: C | |
Monogenetic disorders occur when the mutation affects a single gene; recessive diseases are on
| | | | | | | | | | | | |
| type of monogenetic disorder. Chromosome disorders occur with changes in thenumber or structu
| | | | | | | | | | | | |
of an entire chromosome or large segments of it. Mitochondrial disorders are rare and are related to
| | | | | | | | | | | | | | | | |
|mutations in the genetic material found in the mitochondria and not the chromosomes. Multifactori
| | | | | | | | | | | | |
| disorders are caused by mutations that may have inherited and environmental causes.
| | | | | | | | | | |
5. 5. Which type of testing will the primary care pediatric nurse practitioner recommend for a couple
| | | | | | | | | | | | | | |
| concerned |about |the |potential |for |having |children |with |cystic |fibrosis?
a. Biochemical testing |
b. Carrier testing |
c. FISH testing |
d. Karyotype testing: ANS: B | | |
Carrier testing is used to detect the presence of a carrier state by detecting whether each has one co
| | | | | | | | | | | | | | | | | |
| of a gene mutation known to cause a specific disorder caused when two copies are present.
| | | | | | | | | | | | | | |
|Biochemical testing is used to study the amount, activity level, or structure of proteins and enzyme
| | | | | | | | | | | | | | |
| that result from gene mutations. FISH testing is used to locate and detect a specific area of a
| | | | | | | | | | | | | | | | |
| particular chromo- some, including subtle missing, additional, or rearranged chromosomal
| | | | | | | | |
| material.
Karyotype testing is used to identify and evaluate the size, shape, and number of chromosomes.
| | | | | | | | | | | | | |
6. 6.Afamilymedical historyconducted during a well babyexam for a newborn girl reveals that hemophilia
| | | | | | | | | | | | | | | | |
| A, |an |X-linked |recessive |disorder, |is |present |in |males |in |three |previous |generations |in |the |mother's
4 |/ |112
