Quiz 21: Congenital and Genetic Disorders

Pathophysiology for the Health Professions

Nursing
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Questions

Q1
Free

Which of the following statements applies to the sex chromosomes?

Multiple Choice
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A) They are identified as XY in the female.
B) They are numbered pair 23 in the karyotype.
C) They contain the same genes as in the other pairs of chromosomes.
D) They are found only in the cells in the gonads (the ovaries and the testes).
Answer:
B) They are numbered pair 23 in the karyotype.
Q2
Free

What is the term for an arrangement of the chromosomes from an individuals cell, organized in pairs based on size and shape?

Multiple Choice
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A) Pedigree
B) Punnett squares
C) Karyotype
D) Genotype
Answer:
C) Karyotype
Q3
Free

What is characteristic of a congenital disorder?

Multiple Choice
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A) Genes are not involved.
B) It is strictly a developmental anomaly.
C) A cause is known.
D) It is usually manifested in the neonatal period.
Answer:
D) It is usually manifested in the neonatal period.
Q4

What is the probability of two parents, both carriers of a defective recessive gene, producing a homozygous child (with each pregnancy)?

Multiple Choice
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A) 0%
B) 25%
C) 50%
D) 75%
Answer:

A) You need to subscribe to get the answer.

Q5

In the case of an X-linked recessive disorder, a carrier mother and unaffected father could produce a/an:

Multiple Choice
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A) normal female.
B) affected female.
C) male carrier.
Answer:

A) You need to subscribe to get the answer.

Q6

Down syndrome is an example of a/an:

Multiple Choice
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A) autosomal dominant disorder.
B) multifactorial disorder.
C) developmental defect.
D) chromosomal disorder.
Answer:

A) You need to subscribe to get the answer.

Q7

Agents that cause damage during embryonic or fetal development are called:

Multiple Choice
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A) teratogenic.
B) mutagenic.
C) multifactorial agents.
D) polygenic agents.
Answer:

A) You need to subscribe to get the answer.

Q8

What is an example of a multifactorial congenital disorder?

Multiple Choice
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A) Type AB blood
B) Down syndrome
C) Color blindness
D) Cleft lip and palate
Answer:

A) You need to subscribe to get the answer.

Q9

Ultrasonography during pregnancy would be helpful in detecting fetal:

Multiple Choice
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A) enzyme deficits.
B) structural anomalies.
C) chromosomal defects.
D) hormonal abnormalities.
Answer:

A) You need to subscribe to get the answer.

Q10

Which of the following statements regarding Down syndrome is TRUE?

Multiple Choice
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A) The typical physical characteristics are present at birth.
B) All children with Down syndrome have the same organ defects and medical problems.
C) The extent of cognitive impairment can be assessed at birth.
D) The birth of a child with Down syndrome is only a risk to mothers over age 35.
Answer:

A) You need to subscribe to get the answer.

Q11

Which of the following statements applies to Huntingtons disease?

Multiple Choice
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A) The effects are obvious at birth.
B) There is a test for the defective gene.
C) There is a 50% probability that the child of an affected parent will be a carrier.
D) The child must inherit the defective gene from both parents in order to be affected.
Answer:

A) You need to subscribe to get the answer.

Q12

A mother is a carrier of Duchenne muscular dystrophy; the father is unaffected. They have one son with muscular dystrophy. Another male child is expected. The probability of the second son having muscular dystrophy is:

Multiple Choice
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A) 100%
B) 50%
C) 25%
D) 0%
Answer:

A) You need to subscribe to get the answer.

Q13

Hemophilia A has been diagnosed in a young boy. He has inherited this defective gene from:

Multiple Choice
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A) his father.
B) his mother.
C) both parents.
Answer:

A) You need to subscribe to get the answer.

Q14

A father affected with hemophilia A, whose wife is unaffected, will pass on the defective gene to:

Multiple Choice
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A) all of his sons, who will be affected.
B) 50% of his sons, who will be affected.
C) all of his daughters, who will be carriers.
D) 50% of his daughters, who will be carriers.
Answer:

A) You need to subscribe to get the answer.

Q15

Which of the following are common manifestations of Down syndrome? 1. Congenital heart defect 2. Cleft lip and palate 3. Large protruding tongue 4. Limited intellectual development

Multiple Choice
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A) 1, 2
B) 1, 3
C) 2, 4
D) 1, 3, 4
Answer:

A) You need to subscribe to get the answer.

Q16

A spontaneous alteration in genetic material that may result from exposure to harmful substances is termed:

Multiple Choice
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A) autosome.
B) genotype.
C) meiosis.
D) mutation.
Answer:

A) You need to subscribe to get the answer.

Q17

A person with sickle cell trait that is heterozygous has:

Multiple Choice
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A) an incomplete dominant gene.
B) a multifactorial condition.
C) co-dominant genes.
D) X-linked dominant trait.
Answer:

A) You need to subscribe to get the answer.

Q18

TORCH is an acronym for routine prenatal screening tests for high-risk maternal infections; TORCH stands for:

Multiple Choice
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A) toxoplasmosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rubella, cytomegalovirus, and herpes.
B) tuberculosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rabies, cytomegalovirus, and HIV.
C) toxoplasmosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rabies, cytomegalovirus, and HIV.
D) tuberculosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rabies, cytomegalovirus, and herpes.
Answer:

A) You need to subscribe to get the answer.

Q19

Which statement applies to the effects of exposure to harmful substances during embryonic life? 1. During the first two weeks, exposure will usually cause death of the embryo. 2. Organs or body structures may be altered by exposure during the first two months. 3. The effects of exposure depend on the stage of development at the time of exposure. 4. Metabolic abnormalities usually follow exposure to teratogens.

Multiple Choice
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A) 1, 3
B) 2, 4
C) 1, 2, 3
D) 2, 3, 4
Answer:

A) You need to subscribe to get the answer.

Q20

Exposure to cocaine during pregnancy leads to increased risk of:

Multiple Choice
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A) premature birth.
B) respiratory problems.
C) sudden infant death syndrome.
D) A, B, and C
Answer:

A) You need to subscribe to get the answer.

Q21

Which term refers to prenatal diagnosis through examination of amniotic fluid?

Multiple Choice
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A) Chorionic villus testing
B) Preparing a family pedigree
C) Amniocentesis
D) Triple-screen test
Answer:

A) You need to subscribe to get the answer.

Q22

The laboratory practice of changing DNA sequences in microorganisms is called:

Multiple Choice
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A) the genotype.
B) gene mutation.
C) genetic engineering.
D) gene therapy.
Answer:

A) You need to subscribe to get the answer.

Q23

The purpose of the Human Genome Project was to:

Multiple Choice
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A) map the nucleotide sequence and identify the genes on each human chromosome.
B) study the common patterns of inheritance of single-gene disorders.
C) manipulate the sequence of DNA in microorganisms and animals.
D) identify spontaneous alterations in genetic material caused by teratogens.
Answer:

A) You need to subscribe to get the answer.

Q24

Developmental disorders can result from all the following EXCEPT:

Multiple Choice
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A) exposure to radiation.
B) mercury in foods and water.
C) drugs and alcohol.
D) folic acid.
Answer:

A) You need to subscribe to get the answer.

Q25

Genes located at the same site on a pair of homologous chromosomes that are also matched for function are called:

Multiple Choice
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A) alleles.
B) genotypes.
C) autosomes.
D) phenotypes.
Answer:

A) You need to subscribe to get the answer.

Q26

Which of the following can easily pass through the placental barrier?

Multiple Choice
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A) Many viruses
B) Some heavy metals
C) Certain chemicals
D) All of the above
Answer:

A) You need to subscribe to get the answer.

Q27

The term proteomics refers to the study of:

Multiple Choice
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A) DNA sequences with unknown functions.
B) gene sequences in individual chromosomes.
C) the proteins resulting from activation of specific genes.
D) identifying certain base pairs in DNA.
Answer:

A) You need to subscribe to get the answer.

Q28

The most invasive prenatal screening test for fetal abnormalities is:

Multiple Choice
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A) ultrasonography.
B) amniocentesis.
C) X-ray.
D) blood tests.
Answer:

A) You need to subscribe to get the answer.

Q29

Which of the following can be detected using amniotic fluid?

Multiple Choice
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A) Chromosomal abnormalities
B) Metabolic disorders
C) Certain structural abnormalities
D) All the above
Answer:

A) You need to subscribe to get the answer.

Q30

Blood tests are performed on neonates primarily to:

Multiple Choice
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A) determine need for immediate surgical correction of anomalies.
B) identify disorders requiring immediate treatment.
C) identify the presence of any inherited disorders.
D) rule out the presence of any infection.
Answer:

A) You need to subscribe to get the answer.

Q31

When genetic influences combine with environmental factors to cause an abnormality, the result is called a:

Multiple Choice
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A) chromosomal disorder.
B) developmental disorder.
C) multifactorial disorder.
D) single-gene disorder.
Answer:

A) You need to subscribe to get the answer.

Q32

The cellular division process that produces the chromosomes that are in the sperm and ova is called:

Multiple Choice
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A) meiosis.
B) mitosis.
C) organogenesis.
D) polysomy.
Answer:

A) You need to subscribe to get the answer.

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