PATH CH 21
Genetic Disorders and Prenatal Knowledge Quiz
Test your understanding of genetic disorders and prenatal care with this informative quiz. Explore a range of topics, from chromosomal abnormalities to congenital disorders, and enhance your knowledge on critical health issues affecting development.
- 32 carefully crafted questions
- Multiple-choice format to gauge your knowledge
- Designed for students and educators alike
Which of the following statements applies to the sex chromosomes?
They are identified as XY in the female.
They are numbered pair 23 in the karyotype
. They contain the same genes as in the other pairs of chromosomes.
They are found only in the cells in the gonads (the ovaries and the testes).
What is the term for an arrangement of the chromosomes from an individual’s cell, organized in pairs based on size and shape?
Pedigree
Punnett squares
Karyotype
Genotype
What is characteristic of a congenital disorder?
Genes are not involved.
It is strictly a developmental anomaly.
A cause is known.
It is usually manifested in the neonatal period.
What is the probability of two parents, both carriers of a defective recessive gene, producing a homozygous child (with each pregnancy)?
0%
25%
50%
75%
In the case of an X-linked recessive disorder, a carrier mother and unaffected father could produce a/an:
Normal female
Affected female.
Male carrier
NONE OF THE ABOVE
Down syndrome is an example of a/an:
Autosomal dominant disorder.
Multifactorial disorder.
Developmental defect.
Chromosomal disorder
Agents that cause damage during embryonic or fetal development are called:
teratogenic
Mutagenic.
Multifactorial agents.
Polygenic agents.
What is an example of a multifactorial congenital disorder?
Type AB blood
Down syndrome
Color blindness
Cleft lip and palate
Ultrasonography during pregnancy would be helpful in detecting fetal:
Enzyme deficits.
Structural anomalies.
Chromosomal defects.
Hormonal abnormalities.
Which of the following statements regarding Down syndrome is TRUE?
The typical physical characteristics are present at birth
All children with Down syndrome have the same organ defects and medical problems.
The extent of cognitive impairment can be assessed at birth.
The birth of a child with Down syndrome is only a risk to mothers over age 35.
.Which of the following statements applies to Huntington’s disease?
The effects are obvious at birth.
There is a test for the defective gene
There is a 50% probability that the child of an affected parent will be a carrier.
The child must inherit the defective gene from both parents in order to be affected.
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:
100%
50%
25%
0%
Hemophilia A has been diagnosed in a young boy. He has inherited this defective gene from:
His father.
His mother.
Both parents.
None of the above
A father affected with hemophilia A, whose wife is unaffected, will pass on the defective gene to:
All of his sons, who will be affected.
50% of his sons, who will be affected.
All of his daughters, who will be carriers.
50% of his daughters, who will be carriers.
Which of the following are common manifestations of Down syndrome?(more than one answer)
Congenital heart defect
Cleft lip and palate
Large protruding tongue
Limited intellectual development
A spontaneous alteration in genetic material that may result from exposure to harmful substances is termed:
Autosome.
Genotype.
Meiosis.
Mutation.
A person with sickle cell trait that is heterozygous has:
An incomplete dominant gene
A multifactorial condition.
Co-dominant genes.
X-linked dominant trait.
TORCH is an acronym for routine prenatal screening tests for high-risk maternal infections; TORCH stands for:
Toxoplasmosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rubella, cytomegalovirus, and herpes.
Tuberculosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rabies, cytomegalovirus, and HIV.
Toxoplasmosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rabies, cytomegalovirus, and HIV.
Tuberculosis, other (hepatitis B, mumps, rubeola, varicella, gonorrhea, syphilis), rabies, cytomegalovirus, and herpes.
Which statement applies to the effects of exposure to harmful substances during embryonic life? (more than one answer)
During the first two weeks, exposure will usually cause death of the embryo.
Organs or body structures may be altered by exposure during the first two months.
The effects of exposure depend on the stage of development at the time of exposure.
Metabolic abnormalities usually follow exposure to teratogens.
Exposure to cocaine during pregnancy leads to increased risk of:
Premature birth.
Respiratory problems.
Sudden infant death syndrome.
A, B, and C
Which term refers to prenatal diagnosis through examination of amniotic fluid?
Chorionic villus testing
Preparing a family pedigree
Amniocentesis
Triple-screen test
The laboratory practice of changing DNA sequences in microorganisms is called:
The genotype.
Gene mutation.
Genetic engineering.
Gene therapy.
The purpose of the Human Genome Project was to:
Map the nucleotide sequence and identify the genes on each human chromosome.
Study the common patterns of inheritance of single-gene disorders.
Manipulate the sequence of DNA in microorganisms and animals.
Identify spontaneous alterations in genetic material caused by teratogens.
Developmental disorders can result from all the following EXCEPT:
Exposure to radiation.
Mercury in foods and water.
Drugs and alcohol.
Folic acid
Genes located at the same site on a pair of homologous chromosomes that are also matched for function are called:
Alleles.
Genotypes.
Autosomes.
Phenotypes.
Which of the following can easily pass through the placental barrier?
Many viruses
Some heavy metals
Certain chemicals
All of the above
The term proteomics refers to the study of:
DNA sequences with unknown functions.
Gene sequences in individual chromosomes.
The proteins resulting from activation of specific genes.
Identifying certain base pairs in DNA.
The most invasive prenatal screening test for fetal abnormalities is:
Ultrasonography.
Amniocentesis
X-ray.
Blood tests.
Which of the following can be detected using amniotic fluid?
Chromosomal abnormalities
Metabolic disorders
Certain structural abnormalities
All the above
Blood tests are performed on neonates primarily to:
Determine need for immediate surgical correction of anomalies.
Identify disorders requiring immediate treatment.
Identify the presence of any inherited disorders.
Rule out the presence of any infection.
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