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Chapter 03: Genetic and Genomics: The Basics of Child Health Garzon Maaks: Burns' Pediatric Primary Care, 7th Edition

This document contains 10 multiple choice questions about genetics and genetic disorders. It covers topics like haploid vs diploid cells, genetic notation, inheritance of recessive disorders, types of genetic mutations like point mutations, and characteristics of genetic disorders like cystic fibrosis being monogenic and recessive. The questions assess understanding of inheritance patterns, risk of transmission to offspring, genetic testing options, and the role of the pediatric nurse practitioner in counseling families on genetic risks and testing.

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Helen Ugochukwu
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109 views

Chapter 03: Genetic and Genomics: The Basics of Child Health Garzon Maaks: Burns' Pediatric Primary Care, 7th Edition

This document contains 10 multiple choice questions about genetics and genetic disorders. It covers topics like haploid vs diploid cells, genetic notation, inheritance of recessive disorders, types of genetic mutations like point mutations, and characteristics of genetic disorders like cystic fibrosis being monogenic and recessive. The questions assess understanding of inheritance patterns, risk of transmission to offspring, genetic testing options, and the role of the pediatric nurse practitioner in counseling families on genetic risks and testing.

Uploaded by

Helen Ugochukwu
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as RTF, PDF, TXT or read online on Scribd
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Chapter 03: Genetic and Genomics: The basics of child health

Garzon Maaks: Burns’ Pediatric Primary Care, 7th Edition

MULTIPLE CHOICE

1. What is true about haploid cells?


a. Each contains 23 paired chromosomes.
b. Each one contains 23 chromosomes.
c. Replication produces two identical cells.
d. They replicate via the process of mitosis.
ANS: B
Haploid cells each contain only 23 chromosomes, while diploid cells contain 23 paired
chromosomes. Diploid cells replicate via the process of mitosis, producing two identical
daughter cells.

2. What does the following genetic notation symbol mean 47,XX,6q-?


a. Male with deletion of chromosome 6
b. Female with deletion of chromosome 6
c. Male with deletion on the long arm of chromosome 6
d. Female with deletion on the long arm of chromosome 6
ANS: D
“XX” is a female. “q” indicates the long arm of a chromosome. “-” indicates a deletion. None
of the remaining options accurately describe the notation “q”.

3. A child has a recessive genetic disorder that is homozygous for that mutation. What is most
likely about this child’s parents?
a. Neither parent has a copy of that gene mutation.
b. Only the mother has a copy of that gene mutation.
c. Only the father has a copy of that gene mutation.
d. Each parent has one copy of that gene mutation.
ANS: D
When a child has a recessive genetic mutation that is homozygous, the child has two copies of
the mutation, each donated by the parents. Since it is recessive, parents may be carriers of the
gene, having only one copy, and pass the disorder to the child when the child inherits two
copies. Both parents have to donate this mutation to the child.

4. 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.

5. 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
b. Mitochondrial
c. Monogenetic
d. Multifactorial
ANS: C
Monogenetic disorders occur when the mutation affects a single gene; recessive diseases are
one type of monogenetic disorder. Chromosome disorders occur with changes in the number
or structure 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. Multifactorial disorders are caused by mutations that may have inherited and
environmental causes.

6. The primary care pediatric nurse practitioner is counseling a couple about genetic risks and
learns that one parent has neurofibromatosis, an autosomal dominant disorder, and the other
parent does not. What will the nurse practitioner include when discussing this disorder and its
transmission?
a. Children must inherit a gene from both parents to develop the disease.
b. Each child born to this couple will have a 50% risk of having the disease.
c. This type of disorder characteristically skips generations.
d. Unaffected offspring may still pass on the disease to their offspring.
ANS: B
With this type of disorder, the gene mutation is passed on from only one parent, who has a
single copy of the gene. The unaffected partner does not carry the genes. Each pregnancy
carries a 50% risk from the probability that the affected parent will either donate an affected
gene or not. Only one gene is necessary to produce disease. This type of disorder usually does
not skip generations. Unaffected offspring will not have the gene and cannot pass on the
disease to their offspring.

7. A family medical history conducted during a well baby exam 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 family, whose father had the disease. What will the primary care pediatric
nurse practitioner tell the parents about the risk of this disease in their children?
a. All of their sons will be affected by the disease.
b. Any sons they have will not be affected by the disease.
c. Daughters have a 50% chance of being carriers of the disease.
d. Their daughter has a 25% chance of having the disease.
ANS: C
If a father is affected by an X-linked recessive disease, all of his daughters will be carriers and
will have a 50% chance of having sons who are affected. Daughters have a 50% chance of
being a carrier, but are not affected, since they receive normal X chromosomes from their
father.

8. 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
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.

9. 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 (FISH) is used to locate and detect a specific area of a
particular chromosome, including subtle missing, additional, or rearranged chromosomal
material. Chromosomal microarray is used to detect micro-deletions or duplications in any of
the chromosomes but not specific gene mutations. Karyotype testing is used to identify and
evaluate the size, shape, and number of chromosomes. Molecular testing is used to detect
specific single gene mutations.

10. 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 copy 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 enzymes that result from gene mutations. FISH testing is used to locate and detect a
specific area of a particular chromosome, including subtle missing, additional, or rearranged
chromosomal material. Karyotype testing is used to identify and evaluate the size, shape, and
number of chromosomes.

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