Patho PrepU Chapter 5
The physician suspects a client may have Klinefelter syndrome. To confirm the diagnosis, the chromosome pattern would identify: 47, XXY 46, XY 23, XY 46, XYY
47, XXY Explanation: Most males with Klinefelter syndrome have one extra X chromosome (47, XXY), and in rare cases, there may be one additional extra X chromosome (48, XXXY).
The criteria for fetal alcohol syndrome diagnosis require the documented presence of all of the following except which one? Three facial abnormalities Growth deficits CNS abnormalities An absence of all or part of the X chromosome
An absence of all or part of the X chromosome. Explanation: An absence of all or part of the X chromosome is seen in Turner syndrome. The other options are criteria for fetal alcohol syndrome diagnosis.
The nurse explains to prospective parents that AA or aa in a Punnett square represent two alleles of a given pair that are the same, or: heterozygotes. homozygotes. dominant. recessive.
homozygotes. Explanation: When two alleles of a given pair are the same as in AA or aa, they are considered homozygotes.
A nurse practitioner (NP) is assessing a client who wishes to become pregnant. What assessment finding represents the most significant risk for Down syndrome? The client is 43 years old and has been pregnant 4 times. The client's most recent pregnancy was 2 years ago and ended with a spontaneous abortion (miscarriage). The client had a therapeutic abortion in her late 20s and smoked until a few years ago. The client worked in a paint factory for several years, quitting around 10 years ago.
The client is 43 years old and has been pregnant 4 times. Explanation: Age is among the most significant risk factors for the development of Down syndrome. Previous pregnancies, abortions, smoking, and occupational hazards are not noted to be major risk factors in the etiology of Down syndrome.
To prevent the pathophysiologic effects of spina bifida, which teachings will the nurse provide to the expectant mother? Drink as much milk as you can tolerate on a daily basis Supplement your diet with at least 0.4 mg of folic acid daily Eat greek yogurt at least two times per day Eat red meat three to four times per week
Supplement your diet with at least 0.4 mg of folic acid daily. Explanation: The major morphogenic defects of the spinal cord and brain are due to the abnormal formation or closure of the neural tube and surrounding tissues, problems that often result in spina bifida. Studies show when folic acid is taken by women of reproductive age, there is a significant decrease in neural tub defects like spina bifida. The recommended daily about is 400 μg (0.4 mg) of folic acid daily.
The health care provider informs the client that she is at risk for developing an autosomal recessive disorder. For which disorder may the client be at risk? Tay-Sachs disease Marfan syndrome Neurofibromatosis type 2 von Recklinghausen disease
Tay-Sachs disease Explanation: Tay-Sachs disease is the only one of these diseases that is an autosomal recessive disorder. All the others are autosomal dominant disorders.
The provider receives fetal karyotype results on one of his clients. The karyotype describes an absence of all or part of the X chromosome. Which condition does the fetus exhibit? Turner syndrome Down syndrome Klinefelter syndrome Achondroplasia
Turner syndrome Explanation: Turner syndrome is caused by an absence of all or part of the X chromosome. Down syndrome is a trisomy 21. Klinefelter syndrome is a condition of testicular dysgenesis accompanied by the presence of one or more extra X chromosomes in excess of the normal XY complement. Achondroplasia is a single-gene inheritance disorder.
A nurse is teaching a pregnant client about teratogenic drugs. Which drug category will the nurse emphasize for the client to avoid during pregnancy? B C D X
X Explanation: This system classifies all drugs approved after 1983 into five pregnancy risk categories: A, B, C, D, and X. Drugs in category A are the least dangerous, and categories B, C, and D are increasingly more dangerous. Those in category X are contraindicated during pregnancy because of proven teratogenicity.
A mother who has one mutant allele on the X chromosome and one normal allele asks the nurse what the percentage is of passing it on to a daughter to be a carrier. The best response would be: 50% 25% 75% 100%
50% Explanation: The common pattern of inheritance is one in which an unaffected mother carries one normal and one mutant allele on the X chromosome. This means that she has a 50% chance of transmitting the defective gene to her sons, and her daughters have a 50% chance of being carrier of the mutant gene. Note that it is not necessary to factor in the odds of the offspring being male or female when calculating the passing of the carrier trait- only the percentage of chance for inheritance for a female offspring.
What is the risk that a mother with the genetic mutation that causes fragile X syndrome will pass the gene on to offspring? 100% of females will be affected 50% of females will be affected 100% of males will be affected 50% of males will be affected
50% of males will be affected Explanation: The common pattern of inheritance is one in which an unaffected mother carries one normal and one mutant allele on the X chromosome. This means that she has a 50 percent chance of transmitting the defective gene to her sons, and her daughters have a 50 percent chance of being carriers of the mutant gene. Males who receive the gene are typically affected.
Which statements about multifactorial inheritance disorders are accurate to share with a family of a child born with a cleft lip and palate? Select all that apply. Can be predicted with the same degree of accuracy as Mendelian single-gene mutations Usually involve more than a single organ or tissue Carry the same risk for recurrence with future pregnancies Have a slightly increased risk among first-degree relatives of the affected person Carry no additional risk with increasing incidence of the defect among relatives
Carry the same risk for recurrence with future pregnancies. Have a slightly increased risk among first-degree relatives of the affected person. Explanation: Although multifactorial traits cannot be predicted with the same degree of accuracy as Mendelian single-gene mutations, characteristic patterns exist. First, multifactorial congenital malformations tend to involve a single organ or tissue. Second, the risk of recurrence in future pregnancies is for the same or a similar defect. This means that parents of a child with a cleft palate defect have an increased risk of having another child with a cleft palate. Third, the increased risk (compared with the general population) among first-degree relatives of the affected person is 2% to 7%. The risk rises with increasing incidence of the defect among relatives. This means that the risk is greatly increased when a second child with the defect is born to a couple.
Abnormalities of body structure, function, or metabolism that are present at birth are known as: Congenital Teratoid Neonatal Premature
Congenital Explanation: Congenital defects, sometimes called birth defects, are abnormalities of body structure, function, or metabolism that are present at birth. A teratoid is a chemical, physical, or biologic agent that produces abnormalities during embryonic or fetal development. Neonatal refers to the period of time that is 28 days after birth. Premature is the state of an infant being born prior to completion of the 37th week of gestation.
A nurse confers with the attending physician about a client with encephalopathy who has been attributed to mitochondrial gene mutation. Why do mutations of the mitochondria affect the brain? Mitochondria are only active in the brain and silenced in other tissues. Mitochondrial mutations affect the ability of tissues to synthesize ATP, and tissues with high demands malfunction without enough ATP. Mitochondrial gene products can cross the blood-brain barrier. Mitochondrial mutations can affect neural gene expression.
Mitochondrial mutations affect the ability of tissues to synthesize ATP, and tissues with high demands malfunction without enough ATP. Explanation: Tissues that have a high demand for the energy provided by ATP malfunction very quickly when ATP cannot be produced fast enough. This includes the brain, the muscular system, the auditory system, and the retina. Mitochondria cannot be silenced by the cell. Mitochondrial proteins and mutations can affect the cell where they reside but not the entire organ.
The tissue that is damaged in Huntington chorea is which of the following? Muscle tissue Skin tissue Nerve tissue Connective tissue
Nerve tissue Explanation: Huntington chorea is a neurodegenerative disorder. It does not involve the other types of tissue.
The nurse is teaching a class of pregnant woman about nutrition, emphasizing their need for folic acid. The nurse's rationale for this relates to prevention of which birth defect? Neural tube defects Blindness Congenital heart defects Attention deficit disorder
Neural tube defects Explanation: Folic acid deficiency has been implicated in the development of neural tube defects (anencephaly, spina bifida, encephalocele). Studies have shown a significant decrease in neural tube defects when folic acid was taken long term by women of reproductive age.
An adolescent presents at the clinic with reports of pedunculated lesions projecting from the skin on the trunk area. The nurse knows that this is a sign of: Marfan syndrome Neurofibromatosis type 1 Down syndrome Klinefelter syndrome
Neurofibromatosis type 1 Explanation: In more than 90% of persons with neurofibromatosis type 1, cutaneous and subcutaneous neurofibromas develop in late childhood or adolescence. The cutaneous neurofibromas, which vary in number from a few to many hundreds, manifest as soft, pedunculated lesions that project from the skin. Marfan syndrome affects several organ systems, including the ocular system (eyes), the cardiovascular system (heart and blood vessels), and the skeletal system (bones and joints). Down syndrome is a congenital condition characterized by varying degrees of intellectual disability and multiple defects. Klinefelter syndrome is a condition that occurs in men who have an extra X chromosome in most of their cells. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility.
The nurse is learning about mitochondrial DNA mutations. She learns that they generally affect which tissues and organs? Neuromuscular Cardiovascular Respiratory Renal
Neuromuscular Explanation: Mitochondrial DNA mutations generally affect tissues that are dependent on oxidative phosphorylation to meet their high needs for metabolic energy. Thus, mtDNA mutations frequently affect the neuromuscular system and produce disorders such as encephalopathies, myopathies, retinal degeneration, loss of extraocular muscle function, and deafness.
Which symptoms support the diagnosis of the autosomal recessive disorder Tay-Sachs disease? Severe mental deterioration originating in infancy Red blood cell defect resulting in periods of severe pain Absence of melanin in the skin, hair, and eyes Respiratory distress that results of excessive secretions
Severe mental deterioration originating in infancy. Explanation: Tay-Sachs disease results in a deficiency of hexosaminidase A that causes severe mental and physical deterioration beginning in infancy. Sickle cell disease is a red blood cell defect. Oculocutaneous albinism causes hypopigmentation of skin, hair, and eyes as a result of the body's inability to synthesize melanin. Cystic fibrosis is a disorder of membrane transport of chloride ions in exocrine glands causing lung and pancreatic disease.
A client goes to radiology for a series of x-rays. As the lead apron is placed over the client, he asks why it is needed. The client should be told that the vest is to protect: against chromosomal breakage. the cell cytoplasm. against protein breakage. against lipid rearrangement.
against chromosomal breakage. Explanation: X-rays have been shown to cause chromosomal breakage and lead to rearrangement and mutation; they do not directly affect the cytoplasm. Proteins and lipids may be altered by X-rays, but they are quickly degraded and removed and therefore have no effect.
Which health care provider is the highest priority for immediate assistance in the first 24 hours following the birth of a newborn with a cleft lip? lactation consultant respiratory therapist occupational therapist social worker
lactation consultant Explanation: Newborns with a cleft lip typically have difficulty with feeding, and the assistance of a lactation consultant may be of help in establishing feeding patterns. Oxygenation is not a typical problem, while activities of daily living and assistive devices are not relevant considerations. Although social work is often of assistance when a child is born with a congenital condition, a cleft lip has fewer implications than most other inherited disorders.