Peds Ch 29
Terms in this set (69)
A couple wants to start a family. They are concerned that their child will be at risk for cystic fibrosis because they each have a cousin with cystic fibrosis. They are seeing a nurse practitioner for preconceptual counseling. What would the nurse practitioner tell them about cystic fibrosis?
a) It is an X-linked inherited disorder
b) It is an autosomal dominant disorder
c) It is an autosomal recessive disorder
d) It is passed by mitochondrial inheritance
It is an autosomal recessive disorder
Cystic fibrosis is autosomal recessive. Nurses also consider other issues when assessing the risk for genetic conditions in couples and families. For example, when obtaining a preconception or prenatal family history, the nurse asks if the prospective parents have common ancestors. This is important to know because people who are related have more genes in common than those who are unrelated, thus increasing their chance for having children with autosomal recessive inherited condition such as cystic fibrosis. Mitochondrial inheritance occurs with defects in energy conversion and affects the nervous system, kidney, muscle, and liver. X-linked inheritance, which has been inherited from a mutant allele of the mother, affects males. Autosomal dominant is an X-linked dominant genetic disease
A couple has just learned that their son will be born with Down's syndrome. The nurse shows a lack of understanding when making which of the following statements?
a) "I will alert your entire family about this so you don't have to."
b) "We have counseling services available, and I recommend them to everyone facing these circumstances."
c) "I will support you in any decision that you make."
d) "I will give you as much information as I can about this condition."
"I will alert your entire family about this so you don't have to."
It is necessary to maintain confidentiality at all times, which prevents healthcare providers from alerting family members about any inherited characteristic unless the family member has given consent for the information to be revealed.
A client who is 37 years of age presents to the health care clinic for her first prenatal check up. Due to her advanced age, the nurse should prepare to talk with the client about her increased risk for what complication?
a) Incompetent cervix
b) Genetic disorders
c) Gestational diabetes
d) Preterm labor
Women over the age of 35 are at increased risk of having a fetus with an abnormal karyotype or other genetic disorders. Gestational diabetes, an incompetent cervix, and preterm labor are risks for any pregnant woman.
When assessing newborns for chromosomal disorders, which assessment would be most suggestive of a problem?
a) Low-set ears
b) Bowed legs
c) Short neck
d) Slanting of the palpebral fissure
A number of common chromosomal disorders, such as trisomies, include low-set ears.
A pregnant client has heard about Down syndrome and wants to know about the risk factors associated with it. Which of the following would the nurse include as a risk factor?
a) Advanced maternal age
b) Recurrent miscarriages
c) Advanced paternal age
d) Family history of condition
Advanced maternal age
Advanced maternal age is one the most important factors that increases the risk of an infant being born with Down syndrome. Down syndrome is not associated with advanced paternal age, recurrent miscarriages, or family history of Down syndrome.
Girls with Turner Syndrome will usually exhibit
a) short stature
b) progressive dementia
c) chorealike movements
d) painful joints
Girls with Turner syndrome usually have a single X chromosome, causing them to have short stature and infertility. Persons with sickle cell anemia have painful joints. Color blindness occurs in persons diagnosed with Huntington disease and they may exhibit chorealike movements. Progressive dementia occurs in early-onset familial Alzheimer's disease.
A Caucasian female client of Jewish ancestry is pregnant. The nurse is aware that the client may be a carrier for which of the following conditions?
a) Tay Sachs disease
d) Krabbe disease
Tay Sachs disease
Because the client is of Jewish ancestry, there is an increased risk of her being a carrier of the Tay Sachs disease gene. Norwegians are at a greater risk for Dupuytrens and Phenylketonuria, while Icelanders have an increased risk for Phenylketonuria.
What is the main purpose of nurses having basic genetic knowledge?
a) To advocate for a cure for genetic disorders
b) To provide support and education to families
c) To understand all genetic disorders, allowing for improved quality of life
d) To ensure proper medical diagnosis
To provide support and education to families
The purpose of the nurse knowing about basic genetics is that it helps her to provide support and education to families. Nurses can advocate for a cure, but this is not the main purpose of attaining basic knowledge of genetics. Providing a medical diagnosis is beyond the scope of practice for a nurse. It would be impossible for the nurse to understand all genetic disorders; it is more reasonable for the nurse to be familiar with the most common genetic disorders
Which statement by the parent of a 12-month-old child diagnosed with Down syndrome shows the need for further education?
a) "Thyroid testing is needed every year."
b) "I will need to delay any further immunizations."
c) "In a couple of years, my child will need an x-ray of the neck."
d) "I will watch closely for development of respiratory infection."
"I will need to delay any further immunizations."
Down syndrome children are at higher risk for infection because of a lowered immune system. Delaying immunizations may expose the child to illnesses that could have been prevented. Down syndrome children are at greater risk for developing thyroid disorders, 1st and 2nd vertebrae disorders, and respiratory infections.
A woman with both heart disease and osteoarthritis has come to the genetics clinic for genetic screening. What would the nurse know about these two diseases?
a) They are direct result of the patient's lifestyle
b) They are multifactorial
c) They do not have a genetic basis
d) They are caused by a single gene
They are multifactorial
Genomic or multifactorial influences involve interactions among several genes (gene-gene interactions) and between genes and the environment (gene-environment interactions), as well as the individual's lifestyle.
A woman in her third trimester has just learned that her fetus has been diagnosed with cri-du-chat syndrome. The nurse recognizes that this child will likely have which of the following characteristics?
a) Small and nonfunctional ovaries
b) Cleft lip and palate
c) Rounded soles of the feet (rocker-bottom)
d) An abnormal, cat-like cry
An abnormal, cat-like cry
Cri-du-chat syndrome is the result of a missing portion of chromosome 5. In addition to an abnormal cry, which sounds much more like the sound of a cat than a human infant's cry, children with cri-du-chat syndrome tend to have a small head, wide-set eyes, a downward slant to the palpebral fissure of the eye, and a recessed mandible. They are severely cognitively challenged. Rounded soles of the feet are characteristic of trisomy 18 syndrome. Cleft lip and palate are characteristic of trisomy 13 syndrome. Small and nonfunctional ovaries are characteristic of Turner syndrome.
Three sisters decide to have genetic testing done because their mother and their maternal grandmother died of breast cancer. Each of the sisters has the BRCA1 gene mutation. The nurse explains that just because they have the gene does not mean that they will develop breast cancer. What does the nurse explain their chances of developing breast cancer depend on?
b) Their lifestyles
d) What other gene mutations they have
A woman who has the BRCA1 hereditary breast cancer gene mutation has a lifetime risk of breast cancer that can be as high as 80%, not 100%. This quality, known as incomplete penetrance, indicates the probability that a given gene will produce disease. The other answers are incorrect because lifestyles, other gene mutations, and susceptibility are not the deciding factor in getting breast cancer if you have the BRCA1 gene mutation.
A 16-year-old recently diagnosed with Marfan syndrome states, "I feel fine. Why do I need to have this testing done?" What is the best response by the nurse?
a) "You want to live a long time, right?"
b) "You are at risk of rupturing your aorta, and the echocardiogram will let us know if there are any problems."
c) "This is routine. Nothing to worry about."
d) "The lab work will let us know if you are developing diabetes as a complication."
"You are at risk of rupturing your aorta, and the echocardiogram will let us know if there are any problems."
Marfan sydrome is a disorder that affects connective tissue. The aorta is susceptible to weakening because of the connective tissue disorder, leading to sudden death from aortic dissection. Diabetes is not a complication of Marfan. The other two choices offer no information and dismiss the teen's concerns.
A gene that is expressed when paired with another gene for the same trait is called
A dominant gene is one that will be expressed when paired with a like gene.
The nurse recognizes that which individual or couple would most benefit from obtaining genetic counseling?
a) 30-year-old female with a normal alpha-fetoprotein screening
b) 23-year-old female, 25-year-old-male, both with family history of sickle cell disorder
c) 25-year-old female, 40-year-old male, both with no significant past medical history
d) 32-year-old female, 25-year-old male with one pregnancy loss
23-year-old female, 25-year-old-male, both with family history of sickle cell disorder
A family history of sickle cell disorder increases the risk of passing the disorder to offspring; genetic counseling would benefit this couple most. The usual standard for counseling for pregnancy loss is two or more, not a single loss. A normal alpha-fetoprotein screening is not a criterion for genetic counseling. All ages listed here do not exceed the criterion for advanced maternal or paternal age.
Which statement by the nurse is most accurate when counseling a couple about transmitting Huntington's disease from father to child?
a) "A daughter cannot be a carrier of the disease because it is an X-linked recessive disorder."
b) "There is a 50% chance of transmission of the disorder because it is an autosomal dominant disorder."
c) "You will transmit the disorder to a son because it is an X-linked dominant disorder."
d) "There is a 75% chance that your offspring will express the disorder because it is an autosomal recessive disorder."
"There is a 50% chance of transmission of the disorder because it is an autosomal dominant disorder."
An offspring of an autosomal dominant disorder has a 50% chance of acquiring the gene to be affected by the disorder. Huntington's is an autosomal dominant disorder. Female offspring of an X-linked recessive disorder have the possibility of being a carrier or of being afflicted with the disorder. With autosomal recessive disorders, there is only a 25% chance that the offspring will express the disorder.
A nursing student correctly identifies that a person's outward appearance or expression of genes is referred to as which of the following?
Alleles are two like genes. Phenotype refers to a person's outward appearance or the expression of genes. Genotype refers to his or her actual gene composition. Genome is the complete set of genes present in a person.
A parent asks why a physical therapist is needed for the 6-month-old child diagnosed with Down syndrome. What is the best response by the nurse?
a) "To optimize the child's development and functioning"
b) "The earlier the intervention, the more likely we are to cure the problem."
c) "To prevent contractures"
d) "To ensure that the child meets all developmental milestones on time"
"To optimize the child's development and functioning"
Interventional therapy is started early to promote the child's development and optimize functioning. The Down syndrome child usually meets developmental milestones at a slower pace. There is no cure for genetic disorders. Range-of-motion activities can prevent contractures; Down syndrome does not require physical therapy.
Which statement by the nurse accurately describes the term phenotype?
a) "The genetic makeup of an individual"
b) "The somatic cells of an individual"
c) "The individual's outward appearance"
d) "Only the homozygous genes outwardly expressed"
"The individual's outward appearance"
Phenotype is the outward characteristic of an individual. The genetic makeup of an individual is a genotype. A somatic cell is an individual cell that combines with others to form an organism. Phenotype can be determined by both homozygous genes and heterozygous genes.
You prepare a couple to have a karyotype performed. Which of the following describes a karyotype?
a) The gene carried on the X or Y chromosome
b) A visual presentation of the chromosome pattern of an individual
c) The dominant gene that will exert influence over a correspondingly located recessive gene
d) A blood test that will reveal an individual's homozygous tendencies
A visual presentation of the chromosome pattern of an individual
A karyotype is a photograph of a person's chromosomes aligned in order.
A pregnant woman undergoes maternal serum alpha-fetoprotein (MSAFP) testing at 16 to 18 weeks' gestation. Which of the following would the nurse suspect if the woman's level is decreased?
a) Cardiac defects
b) Open neural tube defect
c) Down syndrome
d) Sickle-cell anemia
Decreased levels might indicate Down syndrome or trisomy 18. Sickle cell anemia may be identified by chorionic villus sampling. MSAFP levels would be increased with cardiac defects, such as tetralogy of Fallot. A triple marker test would be used to determine an open neural tube defect.
Which type of genetic test would be used to detect the possibility of Down syndrome?
a) Complete blood count (CBC)
b) DNA analysis
c) Hemoglobin electrophoresis
d) Chromosomal analysis
Chromosomal analysis is part of the genetic testing for Down syndrome. DNA analysis may be used in the detection of Huntington disease. Hemoglobin electrophoresis may be used in genetic testing for sickle cell anemia. A complete blood count (CBC) may be used as part of testing for a thalassemia
A nurse is teaching about autosomal dominant and recessive genetics. Which statement by the nurse is accurate?
a) "Two abnormal genes, one from each parent, are required to produce the phenotype in an autosomal recessive disorder."
b) "An autosomal dominant disorder is classified as X-linked."
c) "One abnormal autosomal recessive gene is needed for outward presentation of the disorder."
d) "An autosomal dominant disorder has a lower risk of phenotyping than an autosomal recessive disorder."
"Two abnormal genes, one from each parent, are required to produce the phenotype in an autosomal recessive disorder."
An autosomal recessive disorder requires two abnormal genes to outwardly express the disorder. Recessive disorders have a lower risk of phenotyping than dominant disorders. X-linked and autosomal disorders are two different classifications.
For which of the following clients is preimplantation genetic diagnosis (PGD) a viable option?
a) Clients carrying cystic fibrosis gene
b) Prevention of Pyloric stenosis
c) Prevention of DiGeorge syndrome
d) Client in the second week of pregnancy
Clients carrying cystic fibrosis gene
Preimplantation genetic diagnosis (PGD) is a viable option for clients carrying the cystic fibrosis gene. PGD does not help prevent DiGeorge syndrome or pyloric stenosis. PGD is not a viable option for pregnant clients.
The parents of a child diagnosed with Tay-Sachs inquire about progression of the disorder. Which statement by the nurse is accurate?
a) "Anticonvulstants will be given to prolong life and prevent further brain damage."
b) "Lifetime steroid therapy will reverse the blindness."
c) "The child will experince decreased muscular and neurologic functioning until death occurs."
d) "Symptoms can be controlled by eliminating dairy products."
"The child will experince decreased muscular and neurologic functioning until death occurs."
This is an irreversible progressive disorder that affects the functioning of muscles and the neurologic system. Symptoms cannot be controlled by changes in the diet, and medication therapy will not reverse symptoms nor prolong life. Medication will be used to treat symptoms and provide comfort measures.
Which statement about nondisjunction of a chromosome is true?
a) Only the X chromosomes are affected.
b) Only 4% of Down syndrome cases are attributed to this defect.
c) It may result from genomic imprinting.
d) It is failure of the chromosomal pair to separate.
It is failure of the chromosomal pair to separate.
Nondisjunction simply means failure to separate. Nondisjunction can happen at any chromosome and is attributed to 95% of Down syndrome cases. Genomic imprinting is a different genetic disorder that is not related to nondisjunctioning.
The nurse is caring for a 1-year-old boy with Down syndrome. Which of the following would the nurse be least likely to include in the child's plan of care?
a) Promoting annual vision and hearing tests
b) Describing the importance of a high-fiber diet
c) Explaining developmental milestones to parents
d) Educating parents about how to deal with seizures
Educating parents about how to deal with seizures
It is unlikely that the parents will need to know how to deal with seizures. It will be helpful to provide parents with growth and developmental milestones that are unique to children with Down syndrome. More than 60% of children with Down syndrome have hearing loss, so promoting annual vision and hearing tests is the priority intervention. Special diets are usually not necessary; however, a balanced, high-fiber diet and exercise are important because constipation is frequently a problem.
An African American couple presents for a genetic counseling appointment. They are pregnant and are concerned about their child. What would a patient of African American heritage have genetic carrier testing for?
a) Sickle cell anemia
d) Meckel's diverticulum
Sickle cell anemia
Assessing ancestry and ethnicity is important to help identify individuals and groups who could benefit from genetic testing for carrier identification, such as African Americans routinely offered testing for sickle cell anemia. The other answers are incorrect because they are not identified with the African American race
When an infant is born with a genetic disorder, it is appropriate to advise the parents that
a) experiences the mother had during pregnancy are probably not related.
b) not all genetic disorders are inherited.
c) the disorder has probably occurred in the family before.
d) it is likely that the mother drank alcohol during early cell division.
experiences the mother had during pregnancy are probably not related.
As genetic disorders occur at the moment of conception, events
during pregnancy occur after the problem is already present.
An 18-year-old male patient is diagnosed with Klinefelter syndrome. What signs and symptoms are consistent with this diagnosis?
a) Hypergonadism and decreased pubic hair
b) Hypogonadism and gynecomastia
c) Long torso and decreased facial hair
d) Enlaged testes and tall stature
Hypogonadism and gynecomastia
Klinefelter syndrome affects males, causing only testosterone deficiency. Males may develop female-like characteristics such as gynecomastia and may experience hypogonadism. Decreased pubic and facial hair, along with tall stature, are characteristic of the disorder. The corresponding signs and symptoms listed in the other answer selections are not signs and symptoms of the disorder.
Nondisjunction of a chromosome results in which of the following diagnoses?
a) Duchenne muscular dystrophy
b) Down syndrome
c) Marfan syndrome
d) Huntingon disease
When a pair of chromosomes fails to separate completely (nondisjunction) the resulting sperm or oocyte contains two copies of a particular chromosome. Nondisjunction can result in a fertilized egg having trisomy 21 or Down syndrome. Huntington disease is one example of a germ-line mutation. Duchenne muscular dystrophy, an inherited form of muscular dystrophy, is an example of a genetic disease caused by structural gene mutations. Marfan syndrome is a genetic condition that may occur in a single family member as a result of spontaneous mutation.
You care for a child with Down syndrome (trisomy 21). This is an example of which type of inheritance?
a) Mendelian dominant
b) Phase 2 atrophy
c) Chromosome nondisjunction
d) Mendelian recessive
Down syndrome occurs when an ovum or sperm cell does not divide evenly, permitting an extra 21st chromosome to cross to a new cell.
A pregnant woman has a child at home who has been diagnosed with neurofibromatosis She asks the nurse what she should look for in the new baby that would indicate that it also has neurofibromatosis. What sign should the nurse instruct the woman to look for in the new baby?
a) Projectile vomiting
b) Café-au-lait spots
d) Increased urination
Physical assessment may provide clues that a particular genetic condition is present in a person and family. Family history assessment may offer initial guidance regarding the particular area for physical assessment. For example, a family history of neurofibromatosis type 1, an inherited condition involving tumors of the central nervous system, would prompt the nurse to carry out a detailed assessment of closely related family members. Skin findings such as café-au-lait spots, axillary freckling, or tumors of the skin (neurofibromas) would warrant referral for further evaluation, including genetic evaluation and counseling. A family history of familial hypercholesterolemia would alert the nurse to assess family members for symptoms of hyperlipidemias (xanthomas, corneal arcus, abdominal pain of unexplained origin). As another example, increased urination could indicate type 1 diabetes. Projectile vomiting is indicative of pyloric stensosis.
A community health nurse is visiting her 16-year-old patient, a new mother. The nurse explains to the patient and her mother the genetic screening that is required by the state's law. The patient asks why it is important to have the testing done on the infant. What is the nurse's best response?
a) "This testing is required and you will not be able to refuse it. It usually is free so there is no reason to refuse it."
b) "Genetic testing is a way to determine the rate of infectious disease."
c) "It is important to test newborns for PKU, congenital hypothyroidism, and galactosemia."
d) "PKU, congenital hypothyroidism, and galactosemia are conditions that could result in disability or death if untreated."
"PKU, congenital hypothyroidism, and galactosemia are conditions that could result in disability or death if untreated."
The first aim is to improve management, that is, identify people with treatable genetic conditions that could prove dangerous to their health if left untreated. The other answers are incorrect because genetic testing does not determine the rate of infectious disease. Answer B does not adequately explain the rationale for newborn testing. Answer D fails to inform the patient of the rationale for newborn testing.
An infant with craniosynostosis from Apert syndrome becomes lethargic and starts to vomit. What is the priority nursing intervention?
a) Give IV dextrose
b) Monitor intake and output
c) Notify the doctor and prepare for surgery
d) Reassess every hour and document findings
Notify the doctor and prepare for surgery
The child is exhibiting signs and symptoms of increased intracranial pressure related to premature fusing of the skull joints. Surgery will be needed to relieve the pressure. IV dextrose is contraindicated with increased intracranial pressure. Waiting 1 hour to reassess may lead to brain damage and death. Monitoring intake and output is needed with a hospitalized child but is not the priority intervention based on presentation of symptoms.
The nurse is performing an assessment of a 6-year-old girl with Turner syndrome. Which of the following would the nurse most likely assess?
a) Pectus carinatum
b) Enlarged thyroid gland
c) Short stature and slow growth
d) Short, stubby trident hands
Short stature and slow growth
Short stature and slow growth are frequently the first indication of Turner syndrome. While children with Turner syndrome are more prone to thyroid problems, these problems are not as likely to occur as in other symptoms. Pectus carinatum is typical of children with Marfan syndrome. Short, stubby trident hands are typical of achondroplasia.
Women having in vitro fertilization (IVF) can have both the egg and sperm examined for genetic disorders of single gene or chromosome concerns before implantation.
A nursing student is reviewing information about inheritance and genetic disorders. The student demonstrates understanding of the information by identifying which of the following as an example of a disorder involving multifactorial inheritance?
a) Cystic fibrosis
b) Hypophosphatemic rickets
d) Cleft palate
Cleft palate is attributed to multifactorial inheritance. Hemophilia follows an X-linked recessive inheritance pattern. Hypophosphatemic rickets follows an X-linked dominant inheritance pattern. Cystic fibrosis follows an autosomal recessive inheritance pattern.
After teaching a class of students about genetics and inheritance, the instructor determines that the teaching was successful when the students identify which of the following as the basic unit of heredity?
A gene is the basic unit of heredity of all traits. A chromosome is a long, continuous strand of DNA that carries genetic information. An allele refers to one of two or more alternative versions of a gene at a given position on a chromosome that imparts the same characteristic of that gene. An autosome is a non-sex chromosome.
Cystic fibrosis is an example of which type of inheritance?
b) Autosomal dominant
c) X-linked recessive
d) Autosomal recessive
Cystic fibrosis is an autosomal recessive inherited condition. Huntington disease would be an example of an autosomal dominant inherited condition. Hemophilia is an X-linked recessive inherited condition. Cleft lip is a multifactorial inherited condition.
When describing genetic disorders to a group of childbearing couples, the nurse would identify which as an example of an autosomal dominant inheritance disorder?
b) Cystic fibrosis
c) Huntington's disease
d) Sickle cell disease
Huntington's disease is an example of an autosomal dominant inheritance disorder. Sickle cell disease, phenylketonuria, and cystic fibrosis are examples of autosomal recessive inheritance disorders.
A woman is to undergo chorionic villus sampling as part of a risk assessment for genetic disorders. Which of the following would the nurse include when describing this test to the woman?
a) "A needle will be inserted directly into your fetus's umbilical vessel to collect blood for testing."
b) "An intravaginal ultrasound measures fluid in the space between the skin and spine."
c) "A small piece of tissue from the fetal placenta will be removed and analyzed."
d) "A small amount of amniotic fluid will be withdrawn and collected for analysis."
"A small piece of tissue from the fetal placenta will be removed and analyzed."
Percutaneous umbilical cord sampling involves the insertion of a needle into the umbilical vessel. An amniocentesis involves the collection of amniotic fluid from the amniotic sac. Fetal nuchal translucency involves the use of intravaginal ultrasound to measure fluid collected in the subcutaneous space between the skin and cervical spine of the fetus. Chorionic villus sampling involves the removal of a small tissue specimen from the fetal portion of the placenta
Upon assessment, the nurse notices that the infant's ears are low-set. What is the priority action by the nurse?
a) Inform the parents that low-set ears are a sign of Down syndrome
b) Place the infant on a cardiac monitor
c) Continue to assess the infant to look for other abnormalities
d) Give a vitamin B12 injection to combat the metabolic disorder
Continue to assess the infant to look for other abnormalities
Continue to assess for major and minor congenital anomalies because major anomalies may require immediate medical attention. Three or more minor anomalies increase the chance of a major anomaly. Low-set ears can be a symptom of a variety of genetic disorders. Mentioning Down syndrome without further investigation can cause undue stress in parents. The infant may not need cardiac monitoring; further assessment will provide clues. Diagnostic testing is needed to determine whether the child is afflicted with a metabolic disorder.
A nurse teaching a couple says that when X-linked recessive inheritance is present in a family, the genogram will reveal which of the following?
a) Only males in the family have the disorder.
b) Sons of an affected man are also affected.
c) A history of boys dying at birth for unknown reasons often exists.
d) The parents of the affected man have the disorder.
Only males in the family have the disorder.
When X-linked recessive inheritance is in a family, a genogram will reveal only males in the family with the disorder, a history of girls dying at birth for unknown reasons, unaffected sons of affected men, and parents of affected children not having the disorder
A baby is born with what the physician believes is a diagnosis of trisomy 21. This means that the infant has three number 21 chromosomes. What factor describes this genetic change?
a) The mother also has genetic mutation of chromosome 21
b) The patient has a nondisjunction occurring during meiosis
c) The patient will have a single X chromosome and infertility
d) During meiosis, a reduction of chromosomes resulted in 23
The patient has a nondisjunction occurring during meiosis
During meiosis, a pair of chromosomes may fail to separate completely, creating a sperm or oocyte that contains either two copies or no copy of a particular chromosome. This sporadic event, called nondisjunction, can lead to trisomy. Down syndrome is an example of trisomy. The mother does not have a mutation of chromosome 21, which is indicated in the question. Also, Trisomy does not produce a single X chromosome and infertility. Genes are packaged and arranged in a linear order within chromosomes, which are located in the cell nucleus. In humans, 46 chromosomes occur in pairs in all body cells except oocytes and sperm, which contain only 23 chromosomes.
The parent of a child diagnosed with Duchenne muscular dystrophy asks why gene therapy is not being used to treat her child. What is the best response by the nurse?
a) "Clinical trials are very successful, and you should find one immediately."
b) "Gene therapy remains experimental and is used only in clinical trials."
c) "Genetic testing is unethical."
d) "Gene therapy does not work for muscular dystrophy."
"Gene therapy remains experimental and is used only in clinical trials."
Gene therapy in the United States is currently experimental and is used only in clinical trials. Clinical trials have resulted in minimal success. No documentation supports the statement that gene therapy would not work for muscular dystrophy. Genetic testing is used to diagnose illness; therefore, it is widely accepted as ethical when used to diagnose disorders. Gene therapy may be viewed by some as unethical, but the nurse should provide information in a nonjudgmental manner.
A number of inherited diseases can be detected in utero by amniocentesis. Which of the following diseases can be detected by this method?
a) Diabetes mellitus
c) Trisomy 21
Karyotyping for chromosomal defects can be carried out using amniocentesis.
A nurse is counseling a couple who have a 5-year-old daughter with Down syndrome. The nurse recognizes that their daughter's genome is represented by which of the following?
In Down syndrome, the person has an extra chromosome 21, so this is abbreviated as 47XX21+ (for a female) or 47XY21+ (for a male). 46XX is a normal genome for a female. The abbreviation 46XX5p- is the abbreviation for a female with 46 total chromosomes but with the short arm of chromosome 5 missing (Cri-du-chat syndrome).
A woman carries a recessive gene for sickle cell anemia. If her sexual partner also has this recessive gene, the chance that her first child will develop sickle cell anemia is
a) 0 in 4.
b) 2 in 4.
c) 1 in 4.
d) 3 in 4.
1 in 4.
Autosomal recessive inherited diseases occur at a 1-in-4 incidence in offspring.
Which statement by a parent regarding mitochrondrial disorders requires further education?
a) "It is passed from female to female. That's why my son cannot be affected."
b) "The cells most affected are the ones that require high levels of energy."
c) "My child can exhibit signs and symptoms of the disorder at any point in his life."
d) "Mitochondrial disorders usually worsen over time."
"It is passed from female to female. That's why my son cannot be affected."
Mitochondrial disorders usually are inherited from the mother and affect offspring regardless of sex. Mitochondrial disorders are progressive, and onset of signs and symptoms can occur from infancy to adulthood. The disorder affects cells that require high levels of energy
A woman who has a recessive gene for sickle cell anemia marries a man who also has a recessive gene for sickle cell anemia. Their first child is born with sickle cell anemia. The chance that their second child will develop this disease is
a) 0 in 4.
b) 3 in 4.
c) 1 in 4.
d) 2 in 4.
1 in 4.
Autosomal recessive inherited diseases occur at a 1-in-4 incidence in offspring. The possibility of a chance happening does not change for a second pregnancy.
The nurse is performing a physical examination on a 1-week-old girl with trisomy 13. Which of the following would the nurse expect to assess?
a) Inspection reveals hypoplastic fingernails.
b) Observation discloses severe hypotonia.
c) Inspection shows a clenched fist with overlapping fingers.
d) Observation reveals a microcephalic head.
Observation reveals a microcephalic head.
Children with trisomy 13 have microcephalic heads with malformed ears and small eyes. Severe hypotonia, hypoplastic fingernails, and clenched fists with index and small fingers overlapping the middle fingers are typical symptoms of trisomy 18.
A young couple who underwent preconceptual genetic counseling and testing have learned that they are at high risk for having a child with Down syndrome. They have decided not to have children. Which of the following would be the most appropriate response for the nurse to give?
a) "I think you made the right decision. After all, I never had children, and I'm perfectly happy."
b) "I appreciate your decision, but I urge you to think through this further. Having a child, even one with Down syndrome, is so rewarding."
c) "I understand. In case you would like to discuss this further with a genetic counselor, here is the contact information for the genetic counseling center."
d) "I understand and support your decision. The risk is just not worth it."
"I understand. In case you would like to discuss this further with a genetic counselor, here is the contact information for the genetic counseling center."
Even if a couple decides not to have more children, be certain they know genetic counseling is available for them should their decision change. It is never appropriate for a health care provider to impose his or her own values or opinions on others. Individuals with known inherited diseases in their family must face difficult decisions, such as how much genetic testing to undergo or whether to terminate a pregnancy that will result in a child with a specific genetic disease. Be certain couples have been told all the options available to them, and then leave them to think about the options and make their decision by themselves. Help them to understand nobody is judging their decision because they are the ones who must live with the decision in the years to come.
A 25-year-old woman who recently underwent genetic testing has just learned that she is heterozygous dominant for Huntington disease. Her husband, however, who also underwent the testing, is free from the trait. What are the odds that the couple will have a child who will inherit the disorder?
If a person who is heterozygous or has a dominant illness gene opposing a recessive healthy gene mates with a person who is free of the trait, the chances are even (50%) a child born to the couple would have the disorder or would be disease and carrier free (that is, carrying no affected gene for the disorder).
The incidence of Down syndrome is 1:1600 in women older than 40 years of age, compared with 1:100 in women younger than 20 years.
The incidence of Down syndrome is 1:100 in women older than 40 years of age, compared with 1:1600 in women younger than 20 years.
The nurse is counseling a couple who are concerned that their children might inherit sickle cell disease. Which of the following responses from the couple indicate a need for further teaching?
a) "The disorder can be passed on to the children only if both parents have the gene."
b) "If both parents have the gene, there is a 25% chance of the children having the disorder."
c) "The father cannot pass the disorder onto his son or the mother to her daughter."
d) "Even if the children do not get the disease they can still be carriers of the gene."
"The father cannot pass the disorder onto his son or the mother to her daughter."
The father can pass the gene to his sons and the mother can pass the gene to her daughters. Sickle cell disease is an autosomal recessive disease. This means that both parents must have the disease or be carriers of the gene in order to pass it onto their children. If the parents are both carriers, then there is a 25% chance that they will pass it onto a child. The children can be carriers even if they don't have the disease.
A nurse is assessing a child diagnosed with Sturge-Weber syndrome. Which of the following would the nurse expect to find when assessing the skin?
a) Pigmented nevi
b) Café-au-lait spots
c) Port wine stain
Port wine stain
Facial nevus or port wine stain is most often seen on the forehead and on one side of the face. Café-au-lait spots are commonly associated with neurofibromatosis. Tumors are associated with tuberous sclerosis and neurofibromatosis. Pigmented nevi are associated with neurofibromatosis.
The nurse is describing some of the developmental milestones the mother of a 3-month-old boy with Down syndrome can expect to see in her child. Which statement describes the milestones that are expected in a child with Down syndrome?
a) "He will be speaking in sentences at 21 months of age."
b) "Bladder training can be expected by 2.5 to 3 years of age."
c) "You can expect him to eat with his hands by age 12 months."
d) "He'll be crawling all over the house by 9 months of age."
"You can expect him to eat with his hands by age 12 months."
Children with Down syndrome will accomplish eating with their hands by about 12 months of age. They will develop the skills of typical children, but at an older age. The child with Down syndrome will speak in sentences at 24 months rather than 21 months. Bladder training would occur by 48 months rather than 32 months. A child with Down syndrome will crawl at 11 months rather than 9 months.
When counseling potential parents about genetic disorders, which of the following statements would be appropriate?
a) Genetic disorders primarily follow Mendelian laws of inheritance.
b) Environmental influences may affect multifactorial inheritance.
c) All genetic disorders involve a similar number of abnormal chromosomes.
d) The absence of genetic disorders in both families eliminates the possibility of having a child with a genetic disorder.
Environmental influences may affect multifactorial inheritance.
It is difficult to predict with certainty the incidence of genetic disorders because in some disorders, more than one gene is involved and environmental insults may play a role (cleft palate, for example).
Which of the following conditions is a part of normal newborn screening?
a) Down syndrome
b) Cystic fibrosis
c) Sickle cell anemia
Phenylketonuria is part of normal newborn screening. Prenatal screening includes Down syndrome. Preconception screening includes sickle cell anemia and cystic fibrosis.
A female patient has the Huntington's disease gene. She and her husband want to have a child but are apprehensive about possibly transmitting the disease to their newborn child. They have strong views against abortion. They would also like to have their "own" child and would consider adopting only as a last resort. Which of the following would be most appropriate in this situation?
a) Chancing the conception and birth of a child
b) Using donor gametes for conception of a child
c) Opting for a preimplantation genetic diagnosis
d) Undergoing prenatal diagnosis with prenatal choice of continuing pregnancy
Opting for a preimplantation genetic diagnosis
The most appropriate choice would be opting for a preimplantation genetic diagnosis (PGD). A PGD is a genetic evaluation of the embryo created through IVF which will reveal whether the Huntington's disease gene is present in the embryo. Undergoing prenatal diagnosis with prenatal choice of continuing pregnancy is not an option because the client and her husband are against abortion. Chancing the conception and birth of a child involves the risk of passing the gene to the newborn child. Using donor gametes may reduce the risk, but it is against the client's preferences.
A 45-year-old man has just been diagnosed with Huntington disease. He and his wife are concerned about their four children. What will the nurse explain about the children's possibility of inheriting the gene for the disease?
a) Each child will have no chance of inheriting the disease
b) Each child will have a 50% chance of inheriting the disease
c) Each child will have a 25% chance of inheriting the disease
d) Each child will have a 75% chance of inheriting the disease
Each child will have a 50% chance of inheriting the disease
Huntington disease is an autosomal dominant disorder. Autosomal dominant inherited conditions affect female and male family members equally and follow a vertical pattern of inheritance in families. A person who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome pair. Each of that person's offspring has a 50% chance of inheriting the gene mutation for the condition and a 50% chance of inheriting the normal version of the gene. Based on this information, the choices of 25%, 75%, or no chance of inheriting the disease are incorrect.
A group of nursing students is reviewing information about chromosomal abnormalities. The students demonstrate understanding of this information when they identify which of the following as a common mechanism leading to an abnormal chromosome number?
Nondisjunction refers to the failure of separation of the chromosome pair, leading to an abnormal chromosome number. Deletion occurs when a portion of the chromosome is missing, resulting in a loss of that portion, thereby making the chromosomal structure abnormal. Duplication occurs when a portion of the chromosome is duplicated and an extra chromosomal segment is present; thus, the structure is not normal. Translocation occurs when a portion of one chromosome is transferred to another, leading to an abnormal arrangement.
The nurse is teaching the parents of a 14-year-old boy who has been diagnosed with Klinefelter syndrome. Which response by the parents indicates a need for more teaching?
a) "Our son will need hormonal therapy for the rest of his life."
b) "We could have also had a girl with male characteristics."
c) "So this condition may help explain some of his poor performance in school?"
d) "He may need to get breast reduction surgery in the future."
"We could have also had a girl with male characteristics."
The couple does not understand that this disorder does not occur in females. Klinefelter syndrome is an abnormality of the sex chromosome that affects only males. Klinefelter syndrome is caused by testosterone deficiency and is treated with testosterone replacement. Cognitive impairments do occur, sometimes in the form of learning disabilities, speech or language difficulties, or attention deficits. Breast reduction surgery may be necessary if gynecomastia occurs.
A couple has just learned that their unborn son has a chromosome disorder that results in an extra X chromosome. The physician explains that secondary sex characteristics will not develop in this child at puberty and that his testes will remain small and produce ineffective sperm. The nurse recognizes that this child likely has which of the following conditions?
a) Fragile X syndrome
b) Down syndrome
c) Turner syndrome
d) Klinefelter syndrome
Infants with Klinefelter syndrome are males with an extra X chromosome. At puberty, secondary sex characteristics do not develop; the child's testes remain small and produce ineffective sperm. Turner syndrome occurs in females and is characterized by only one functional X chromosome. Fragile X syndrome is an X-linked disorder in which one long arm of an X chromosome is defective, which results in inadequate protein synaptic responses; it results in cognitive challenges in males. Down syndrome (trisomy 21) is characterized by an extra chromosome at chromosome 21.
A nurse is describing the underlying cause of trisomy 21 to a group of parents, integrating knowledge that the disorder is due to which of the following?
Trisomy 21 is a disorder caused by nondisjunction or error in cell division. It is not due to the loss of a portion of the chromosome (deletion), an extra segment being present (duplication), or transfer of one part of the chromosome to another (translocation).
Which laboratory or diagnostic test would the nurse anticipate to rule out complications related to Down syndrome?
a) Chorionic villi sampling
b) Chromosomal analysis
d) Ultrasound-guided amniocentesis
Many Down syndrome children have cardiac complications. Chorionic villi sampling, chromosomal analysis, and amniocentesis are diagnostic tools used to diagnose genetic disorders, not complications associated with a genetic disorder.
An older pregnant woman has come to the clinic for her first prenatal visit. She asks the nurse about age guidelines for genetic counseling and prenatal testing. The nurse informs the patient that genetic counseling and prenatal testing should be performed for all pregnant women in which age group?
a) 18 and under
b) 25 to 30
c) 18 to 25
d) 35 and older
35 and older
Women who are 35 years of age or older have an increasing chance for giving birth to infants with chromosomal differences, including an extra or missing chromosome.
A woman is to undergo karyotyping. The nurse best explain this testing as which of the following?
a) The makeup of the gene pairs inherited from one's parents
b) A picture-like analysis of the number, form, and size of the woman's chromosomes
c) A representation of the observable characteristics of an individual
d) A picture of a person's genetic blueprint
A picture-like analysis of the number, form, and size of the woman's chromosomes
Karyotyping is a pictorial analysis of the number, form, and size of an individual's chromosomes. Genome is a representation of a person's genetic blueprint. Genotype refers to the specific genetic makeup or gene pairs inherited from one's parents. Phenotype refers to the observed outward characteristics of an individual.
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