Question 1

What is an important responsibility of the primary care pediatric nurse practitioner to help determine genetic risk factors in families?&#10;A) Assessing physical characteristics of genetic disorders&#10;B) Knowing which genetic screening tests to perform&#10;C) Making appropriate referrals to pediatric geneticists&#10;D) Obtaining a three-generation pedigree for each family

Accepted Answer

Obtaining a three-generation pedigree for each family is an important responsibility of the primary care pediatric nurse practitioner to help determine genetic risk factors in families. This allows for the identification of patterns of inheritance and potential genetic disorders in the family. Assessing physical characteristics of genetic disorders, knowing which genetic screening tests to perform, and making appropriate referrals to pediatric geneticists are also important responsibilities, but obtaining a three-generation pedigree is the most essential step in identifying genetic risk factors.

Question 2

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.

C

Accepted Answer

Hemophilia A is an X-linked recessive disorder, meaning it is carried on the X chromosome. Females have two X chromosomes, so if one X chromosome carries the mutation, the other X chromosome can compensate. Males only have one X chromosome, so if it carries the mutation, they will be affected by the disease. Therefore, sons of a female carrier have a 50% chance of being affected by the disease, while daughters have a 50% chance of being carriers of the disease.

Question 3

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.

B

Accepted Answer

Neurofibromatosis is an autosomal dominant disorder, which means that each child of the affected parent has a 50% chance of inheriting the disease. It does not skip generations and unaffected offspring cannot pass on the disease unless they themselves are carriers. Children must inherit only one copy of the gene from the affected parent to develop the disease.

Question 4

What is true about haploid cells?&#10;A) Each contains 23 paired chromosomes.&#10;B) Each one contains 23 chromosomes.&#10;C) Replication produces two identical cells.&#10;D) They replicate via the process of mitosis.

Accepted Answer

Haploid cells contain only one set of chromosomes (23 in humans), so they have half the number of chromosomes as diploid cells (which have two sets of chromosomes).

Question 5

Which type of mutation is responsible for many single-gene genetic disorders?&#10;A) Copy number variations&#10;B) Nucleotide repeat expansions&#10;C) Point mutations&#10;D) Single nucleotide polymorphisms (SNP)

Accepted Answer

Point mutations are responsible for many single-gene genetic disorders. This type of mutation involves a change in a single nucleotide (A, T, C, or G) in the DNA sequence, such as a substitution, insertion, or deletion. These mutations can disrupt the normal function of a gene or protein, leading to genetic disorders. Examples of single-gene disorders caused by point mutations include cystic fibrosis and sickle cell anemia. Copy number variations and nucleotide repeat expansions are types of mutations that can also cause genetic disorders, but they typically involve changes in larger portions of the DNA sequence. Single nucleotide polymorphisms (SNPs) are common variations in the DNA sequence that are not typically associated with genetic disorders.

Question 6

Which diagnostic study may be ordered when the provider wishes to detect the presence of additional genetic material on a chromosome?&#10;A) Chromosomal microarray&#10;B) FISH&#10;C) Karyotype&#10;D) Molecular testing

Accepted Answer

The answer of Which diagnostic study may be ordered when...

Question 7

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?&#10;A) Biochemical testing&#10;B) Carrier testing&#10;C) FISH testing&#10;D) Karyotype testing

Accepted Answer

Carrier testing is the most appropriate option for a couple concerned about the potential for having a child with cystic fibrosis. This testing can determine if either partner is a carrier of the gene mutation that causes cystic fibrosis. If both partners are carriers, they have a 25% chance of having a child with cystic fibrosis. Biochemical testing, FISH testing, and karyotype testing are not used for diagnosing or identifying carriers of cystic fibrosis.

Question 8

What does the following genetic notation symbol mean 47,XX,6q-?&#10;A) Male with deletion of chromosome 6&#10;B) Female with deletion of chromosome 6&#10;C) Male with deletion on the long arm of chromosome 6&#10;D) Female with deletion on the long arm of chromosome 6

Accepted Answer

The notation 47,XX indicates a female with 47 chromosomes, where XX represents the two X chromosomes. The notation 6q- indicates a deletion on the long arm (q) of chromosome 6. Therefore, choice D is correct, indicating a female with a deletion on the long arm of chromosome 6.

Question 9

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?&#10;A) Chromosome&#10;B) Mitochondrial&#10;C) Monogenetic&#10;D) Multifactorial

Accepted Answer

Cystic fibrosis is a monogenetic disorder, caused by a mutation in a single gene. It is inherited in an autosomal recessive manner, meaning that both parents must pass on a mutated allele for the disease to manifest in their child. Chromosomal disorders are caused by abnormalities in the number or structure of chromosomes, while mitochondrial disorders involve mutations in genes located in the mitochondria. Multifactorial disorders are caused by a combination of genetic and environmental factors.

Question 10

A child has a recessive genetic disorder that is homozygous for that mutation. What is most likely about this child's parents?&#10;A) Neither parent has a copy of that gene mutation.&#10;B) Only the mother has a copy of that gene mutation.&#10;C) Only the father has a copy of that gene mutation.&#10;D) Each parent has one copy of that gene mutation.

Accepted Answer

If the child has a recessive genetic disorder that is homozygous for that mutation, it means that both copies of the gene have that mutation. This can only happen if both parents are carriers of that mutation and each gave one copy of the mutated gene to the child. Therefore, each parent has one copy of that gene mutation.

Deck 3: Genetic and Genomics: the Basics of Child Health