Question 1

Which of the following statements regarding Down syndrome is TRUE?

Accepted Answer

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. 
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. A

Question 2

What is characteristic of a congenital disorder?

Accepted Answer

A) There is a genetic component. 
B) It is a developmental anomaly. 
C) A cause is known. 
D) Usually manifested in the neonatal period. 
A) There is a genetic component. 
B) It is a developmental anomaly. 
C) A cause is known. 
D) Usually manifested in the neonatal period. D

Question 3

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

Accepted Answer

A) autosome 
B) genotype 
C) meiosis 
D) mutation 
E) allele 
A) autosome 
B) genotype 
C) meiosis 
D) mutation 
E) allele D

Question 4

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

Accepted Answer

A) all his sons,who will be affected 
B) 50% of his sons,who will be affected 
C) all his daughters,who will be carriers 
D) 50% of his daughters,who will be carriers 
A) all his sons,who will be affected 
B) 50% of his sons,who will be affected 
C) all his daughters,who will be carriers 
D) 50% of his daughters,who will be carriers

Question 5

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

Accepted Answer

A) 1,2 
B) 1,3 
C) 2,4 
D) 1,3,4 
A) 1,2 
B) 1,3 
C) 2,4 
D) 1,3,4

Question 6

The most invasive prenatal screening test for fetal abnormalities is:

Accepted Answer

A) ultrasonography 
B) amniocentesis 
C) X-ray 
D) blood tests 
A) ultrasonography 
B) amniocentesis 
C) X-ray 
D) blood tests

Question 7

A person with sickle cell trait that is heterozygous has:

Accepted Answer

A) an incomplete dominant gene 
B) a multifactorial condition 
C) co-dominant genes 
D) X-linked dominant trait 
A) an incomplete dominant gene 
B) a multifactorial condition 
C) co-dominant genes 
D) X-linked dominant trait

Question 8

Down syndrome is an example of a/an:

Accepted Answer

A) autosomal dominant disorder 
B) multifactorial disorder 
C) developmental defect 
D) chromosomal disorder 
A) autosomal dominant disorder 
B) multifactorial disorder 
C) developmental defect 
D) chromosomal disorder

Question 9

Exposure to cocaine during pregnancy leads to increased risk of:

Accepted Answer

A) premature birth 
B) respiratory problems 
C) sudden infant death syndrome 
D) a,b 
E) a,b,c 
A) premature birth 
B) respiratory problems 
C) sudden infant death syndrome 
D) a,b 
E) a,b,c

Question 10

Blood tests are primarily performed on neonates in order to:

Accepted Answer

A) determine need for immediate surgical correction of anomalies 
B) commence immediate treatment for metabolic abnormalities 
C) identify the presence of any inherited disorders 
D) rule out the presence of any infection 
A) determine need for immediate surgical correction of anomalies 
B) commence immediate treatment for metabolic abnormalities 
C) identify the presence of any inherited disorders 
D) rule out the presence of any infection

Question 11

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:

Accepted Answer

A) 100% 
B) 50% 
C) 25% 
D) 0% 
A) 100% 
B) 50% 
C) 25% 
D) 0%

Question 12

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.

Accepted Answer

A) 1,3 
B) 2,4 
C) 1,2,3 
D) 2,3,4 
A) 1,3 
B) 2,4 
C) 1,2,3 
D) 2,3,4

Question 13

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

Accepted Answer

A) 0% 
B) 25% 
C) 50% 
D) 75% 
A) 0% 
B) 25% 
C) 50% 
D) 75%

Question 14

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

Accepted Answer

A) many viruses 
B) some heavy metals 
C) certain chemicals 
D) all of the above 
E) none of the above 
A) many viruses 
B) some heavy metals 
C) certain chemicals 
D) all of the above 
E) none of the above

Question 15

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

Accepted Answer

A) chorionic villus testing 
B) preparing a family pedigree 
C) amniocentesis 
D) triple-screen test 
A) chorionic villus testing 
B) preparing a family pedigree 
C) amniocentesis 
D) triple-screen test

Question 16

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

Accepted Answer

A) normal female 
B) affected female 
C) male carrier 
A) normal female 
B) affected female 
C) male carrier

Question 17

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

Accepted Answer

A) chromosomal disorder 
B) developmental disorder 
C) multifactorial disorder 
D) single-gene disorder 
A) chromosomal disorder 
B) developmental disorder 
C) multifactorial disorder 
D) single-gene disorder

Question 18

The term proteomics refers to the study of:

Accepted Answer

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 
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

Question 19

Developmental disorders can result from all the following EXCEPT:

Accepted Answer

A) exposure to radiation 
B) mercury in foods and water 
C) drugs and alcohol 
D) cigarette smoking 
E) folic acid 
A) exposure to radiation 
B) mercury in foods and water 
C) drugs and alcohol 
D) cigarette smoking 
E) folic acid

Question 20

Which of the following statements apply to the sex chromosomes?

Accepted Answer

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 testes. 
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 testes.

Exam 7: Congenital and Genetic Disorders

Which of the following statements regarding Down syndrome is TRUE?

What is characteristic of a congenital disorder?

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

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

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

The most invasive prenatal screening test for fetal abnormalities is:

A person with sickle cell trait that is heterozygous has:

Down syndrome is an example of a/an:

Exposure to cocaine during pregnancy leads to increased risk of:

Blood tests are primarily performed on neonates in order to:

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:

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

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

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

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

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

The term proteomics refers to the study of:

Developmental disorders can result from all the following EXCEPT:

Which of the following statements apply to the sex chromosomes?

Introduction to Pathophysiology

Inflammation and Healing

Immunity and Abnormal Responses

Infection

Neoplasms

Fluid, Electrolyte and Acid-Base Imbalances

Diseases Associated With Adolescence

Potential Complications of Pregnancy

Aging and Disease Processes

Effects of Immobility

The Influence of Stress

Pain

Substance Abuse

Environmental Hazards

Introduction to Basic Pharmacology and Selected Therapies

Blood and Lymphatic Disorders

Cardiovascular Disorders

Respiratory Disorders

Digestive System Disorders

Urinary System Disorders

Acute Neurological Disorders

Chronic Neurologic Disorders

Disorders of the Eye and Ear

Endocrine Disorders

Musculoskeletal Disorders

Skin Disorders

Reproductive System Disorders

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