Question 1

For a person who has any type of chromosomal abnormality, what factor(s) has/have the greatest impact on both physical and cognitive potential?

Accepted Answer

A) Prenatal testing and diagnosis 
B) The number of affected family members 
C) Personal family environment and social interaction 
D) The number of chromosomes involved with the abnormality 
A) Prenatal testing and diagnosis 
B) The number of affected family members 
C) Personal family environment and social interaction 
D) The number of chromosomes involved with the abnormality C

Question 2

Which statement regarding partial chromosomal deletions or duplications reflects the cause of manifestations?

Accepted Answer

A) They result in either a triple dose of some gene alleles or a single dose of some alleles. 
B) They usually result in fewer or milder manifestations than do trisomies or monosomies. 
C) The manifestations are unpredictable because they commonly vary depending on parental origin. 
D) General prenatal chromosomal analysis has resulted in fewer children being born with these problems. 
A) They result in either a triple dose of some gene alleles or a single dose of some alleles. 
B) They usually result in fewer or milder manifestations than do trisomies or monosomies. 
C) The manifestations are unpredictable because they commonly vary depending on parental origin. 
D) General prenatal chromosomal analysis has resulted in fewer children being born with these problems. A

Question 3

Which cancer type has an increased incidence among children with WAGR syndrome?

Accepted Answer

A) Acute leukemia 
B) Brain tumors 
C) Colorectal cancer 
D) Nephroblastoma 
A) Acute leukemia 
B) Brain tumors 
C) Colorectal cancer 
D) Nephroblastoma D

Question 4

What is the risk for a woman who had a retinoblastoma in early childhood as a result of a partial deletion on one number 13 chromosome to have a child who also develops the disorder?

Accepted Answer

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

Question 5

What is the best explanation for a person whose karyotype from blood cells shows nearly all cells to have trisomy 21 to have 10 clinical manifestations of Downsyndromeand an above-average intelligence?

Accepted Answer

A) The trisomy was a result of nondisjunction of paternal gametes instead of maternal gametes. 
B) The person has pseudo-Down syndrome, in which environmental conditions caused the person to have development that mimics only the physical manifestations. 
C) The person has genomic imprinting, in which the paternal number 21 chromosome is not expressed, and both maternally derived number 21 chromosomes are expressed. 
D) The person has mosaicism of trisomy 21, with blood cells having a high proportion and neurons having a low proportion of cells, with three number 21 chromosomes. 
A) The trisomy was a result of nondisjunction of paternal gametes instead of maternal gametes. 
B) The person has pseudo-Down syndrome, in which environmental conditions caused the person to have development that mimics only the physical manifestations. 
C) The person has genomic imprinting, in which the paternal number 21 chromosome is not expressed, and both maternally derived number 21 chromosomes are expressed. 
D) The person has mosaicism of trisomy 21, with blood cells having a high proportion and neurons having a low proportion of cells, with three number 21 chromosomes.

Question 6

Which factor has the greatest influence on the expression of a genetic disorder such as Prader-Willi syndrome or Angelman syndrome through the process of genomic imprinting?

Accepted Answer

A) Paternal age at time of conception 
B) Maternal age at time of conception 
C) The gender of the parent transmitting the deletion 
D) The number of bases deleted from the chromosome 
A) Paternal age at time of conception 
B) Maternal age at time of conception 
C) The gender of the parent transmitting the deletion 
D) The number of bases deleted from the chromosome

Question 7

How is a Robertsonian translocation different from a reciprocal translocation?

Accepted Answer

A) A Robertsonian translocation is unbalanced, and a reciprocal translocation is balanced. 
B) A reciprocal translocation is unbalanced, and a Robertsonian translocation is balanced. 
C) Reciprocal translocations occur between whole acrocentric chromosomes, and Robertsonian translocations occur between any two nonhomologous chromosomes. 
D) Robertsonian translocations occur between whole acrocentric chromosomes, and reciprocal translocations occur between any two nonhomologous chromosomes. 
A) A Robertsonian translocation is unbalanced, and a reciprocal translocation is balanced. 
B) A reciprocal translocation is unbalanced, and a Robertsonian translocation is balanced. 
C) Reciprocal translocations occur between whole acrocentric chromosomes, and Robertsonian translocations occur between any two nonhomologous chromosomes. 
D) Robertsonian translocations occur between whole acrocentric chromosomes, and reciprocal translocations occur between any two nonhomologous chromosomes.

Question 8

Which feature of a 15q deletion is present in both Angelman syndrome and Prader-Willi syndrome?

Accepted Answer

A) Light skin, eye, and hair coloring 
B) Continuous smiling and jerky gait 
C) Excessive appetite and weight gain 
D) Progressive tremors and seizure activity 
A) Light skin, eye, and hair coloring 
B) Continuous smiling and jerky gait 
C) Excessive appetite and weight gain 
D) Progressive tremors and seizure activity

Question 9

Why is Down syndrome the most common trisomy disorder seen among liveborn infants?

Accepted Answer

A) The extra alleles from trisomies of larger chromosomes are embryo lethal. 
B) Nondisjunction occurs more frequently for chromosome 21 than for any other chromosome. 
C) Trisomies resulting from nondisjunction express fewer alleles than trisomies that result from unbalanced translocations. 
D) The incidence may not be truly higher but is recognized more often because the features of a baby with trisomy 21 are more obvious and not missed as often as are the more subtle features of other trisomies. 
A) The extra alleles from trisomies of larger chromosomes are embryo lethal. 
B) Nondisjunction occurs more frequently for chromosome 21 than for any other chromosome. 
C) Trisomies resulting from nondisjunction express fewer alleles than trisomies that result from unbalanced translocations. 
D) The incidence may not be truly higher but is recognized more often because the features of a baby with trisomy 21 are more obvious and not missed as often as are the more subtle features of other trisomies.

Question 10

Which syndrome or condition represents monosomy?

Accepted Answer

A) Cri du chat 
B) Patau syndrome 
C) Turner syndrome 
D) Robertsonian translocation 
A) Cri du chat 
B) Patau syndrome 
C) Turner syndrome 
D) Robertsonian translocation

Question 11

Which reproductive consequence is possible for a man who has a 13;15 Robertsonian translocation when his wife has a normal karyotype?

Accepted Answer

A) He is unlikely to ever impregnate his wife. 
B) Because his wife has a normal karyotype, there are no reproductive consequences. 
C) He has an increased risk for having a child born with either trisomy 13 or trisomy 15. 
D) He has an increased risk for having a child born with either monosomy 13 or monosomy 15. 
A) He is unlikely to ever impregnate his wife. 
B) Because his wife has a normal karyotype, there are no reproductive consequences. 
C) He has an increased risk for having a child born with either trisomy 13 or trisomy 15. 
D) He has an increased risk for having a child born with either monosomy 13 or monosomy 15.

Question 12

Why does a person who has a deletion of the coding regions for five genes on one chromosome 15 have some manifestations or overt problems?

Accepted Answer

A) The deletions occurred in an autosome and not in a sex chromosome. 
B) He or she has only one copy of the gene alleles, which results in reduced function. 
C) The overall expression of the deleted areas is the same as if trisomy 15 were present. 
D) The deleted areas are introns rather than exons; thus, no compensation occurred on the homologous chromosome. 
A) The deletions occurred in an autosome and not in a sex chromosome. 
B) He or she has only one copy of the gene alleles, which results in reduced function. 
C) The overall expression of the deleted areas is the same as if trisomy 15 were present. 
D) The deleted areas are introns rather than exons; thus, no compensation occurred on the homologous chromosome.

Question 13

Which statement about partial deletions and duplications of autosomes is true?

Accepted Answer

A) If one child in a family has the abnormality, the risk for recurrence is 50% with each pregnancy. 
B) The aberration represents failure of chromosomal segregation during gametogenesis. 
C) The underlying cause is random chromosome breakage and rearrangement. 
D) The incidence increases with advancing maternal or paternal age. 
A) If one child in a family has the abnormality, the risk for recurrence is 50% with each pregnancy. 
B) The aberration represents failure of chromosomal segregation during gametogenesis. 
C) The underlying cause is random chromosome breakage and rearrangement. 
D) The incidence increases with advancing maternal or paternal age.

Question 14

What is the most likely explanation for a baby boy to have Tay-Sachs disease when the child's mother is not a carrier for the problem, but the father is a carrier?

Accepted Answer

A) The mother is not really the biological parent of this child. 
B) The mother's normal gene allele is not expressed, and the father's Tay-Sachs allele is expressed. 
C) A new mutation occurred in the father's sperm in which the Tay-Sachs gene has become dominant. 
D) The father's Tay-Sachs gene has been translocated from its usual locus to the Y chromosome and thus is expressed in any male child. 
A) The mother is not really the biological parent of this child. 
B) The mother's normal gene allele is not expressed, and the father's Tay-Sachs allele is expressed. 
C) A new mutation occurred in the father's sperm in which the Tay-Sachs gene has become dominant. 
D) The father's Tay-Sachs gene has been translocated from its usual locus to the Y chromosome and thus is expressed in any male child.

Question 15

Why does an embryo with a balanced translocation have the same chance for normal development that an embryo with a normal karyotype has?

Accepted Answer

A) The translocation stimulates DNA repair mechanisms to correct the problem before commitment occurs. 
B) The embryo's somatic cells are unaffected, expressing a normal karyotype; only germline cells express the translocation. 
C) Although the location of the genetic material is abnormal with a balanced translocation, there are no missing or extra alleles. 
D) When a zygote with a balanced translocation reaches the embryo stage without a spontaneous abortion, the risk for abnormal development decreases. 
A) The translocation stimulates DNA repair mechanisms to correct the problem before commitment occurs. 
B) The embryo's somatic cells are unaffected, expressing a normal karyotype; only germline cells express the translocation. 
C) Although the location of the genetic material is abnormal with a balanced translocation, there are no missing or extra alleles. 
D) When a zygote with a balanced translocation reaches the embryo stage without a spontaneous abortion, the risk for abnormal development decreases.

Question 16

Which chromosome is trisomic in Edward syndrome?

Accepted Answer

A) 13 
B) 18 
C) 22 
D) X 
A) 13 
B) 18 
C) 22 
D) X

Question 17

Which description is the best example of "genomic imprinting"?

Accepted Answer

A) A child inherits a trait that his paternal grandfather expressed but that his father did not express. 
B) Boys can inherit only masculine traits from their fathers because women do not have a Y chromosome. 
C) There is a qualitative difference in some gene alleles based on whether they are inherited from the mother or the father. 
D) When the number of sex chromosomes is greater than normal, the resulting individual is most often infertile. 
A) A child inherits a trait that his paternal grandfather expressed but that his father did not express. 
B) Boys can inherit only masculine traits from their fathers because women do not have a Y chromosome. 
C) There is a qualitative difference in some gene alleles based on whether they are inherited from the mother or the father. 
D) When the number of sex chromosomes is greater than normal, the resulting individual is most often infertile.

Question 18

What is the risk for a man who has Down syndrome to produce a child with Down syndrome with a woman who has a normal karyotype?

Accepted Answer

A) 100% 
B) 50% 
C) 5% 
D) 0% 
A) 100% 
B) 50% 
C) 5% 
D) 0%

Question 19

Which autosomal condition or syndrome commonly features a cleft lip and palate?

Accepted Answer

A) Angelman syndrome 
B) Cri du chat 
C) Edward syndrome 
D) Prader-Willi syndrome 
A) Angelman syndrome 
B) Cri du chat 
C) Edward syndrome 
D) Prader-Willi syndrome

Question 20

What is the best explanation of a child having the physical phenotype of Down syndrome but having a totally normal karyotype on chromosomal analysis of blood?

Accepted Answer

A) Mosaicism of trisomy 21 in various tissues 
B) Inaccurate technique for chromosomal analysis 
C) Uniparental disomy for somatic cells but not for germ cells 
D) Selective chromosome loss during meiosis II of gametogenesis 
A) Mosaicism of trisomy 21 in various tissues 
B) Inaccurate technique for chromosomal analysis 
C) Uniparental disomy for somatic cells but not for germ cells 
D) Selective chromosome loss during meiosis II of gametogenesis

For a person who has any type of chromosomal abnormality, what factor(s) has/have the greatest impact on both physical and cognitive potential?

Which statement regarding partial chromosomal deletions or duplications reflects the cause of manifestations?

Which cancer type has an increased incidence among children with WAGR syndrome?

What is the risk for a woman who had a retinoblastoma in early childhood as a result of a partial deletion on one number 13 chromosome to have a child who also develops the disorder?

What is the best explanation for a person whose karyotype from blood cells shows nearly all cells to have trisomy 21 to have 10 clinical manifestations of Downsyndromeand an above-average intelligence?

Which factor has the greatest influence on the expression of a genetic disorder such as Prader-Willi syndrome or Angelman syndrome through the process of genomic imprinting?

How is a Robertsonian translocation different from a reciprocal translocation?

Which feature of a 15q deletion is present in both Angelman syndrome and Prader-Willi syndrome?

Why is Down syndrome the most common trisomy disorder seen among liveborn infants?

Which syndrome or condition represents monosomy?

Which reproductive consequence is possible for a man who has a 13;15 Robertsonian translocation when his wife has a normal karyotype?

Why does a person who has a deletion of the coding regions for five genes on one chromosome 15 have some manifestations or overt problems?

Which statement about partial deletions and duplications of autosomes is true?

What is the most likely explanation for a baby boy to have Tay-Sachs disease when the child's mother is not a carrier for the problem, but the father is a carrier?

Why does an embryo with a balanced translocation have the same chance for normal development that an embryo with a normal karyotype has?

Which chromosome is trisomic in Edward syndrome?

Which description is the best example of "genomic imprinting"?

What is the risk for a man who has Down syndrome to produce a child with Down syndrome with a woman who has a normal karyotype?

Which autosomal condition or syndrome commonly features a cleft lip and palate?

What is the best explanation of a child having the physical phenotype of Down syndrome but having a totally normal karyotype on chromosomal analysis of blood?

DNA Structure and Function

Protein Synthesis

Genetic Influence on Cell Division, Differentiation, and Gametogenesis

Patterns of Inheritance

Epigenetic Influences on Gene Expression

Sex Chromosome and Mitochondrial Inheritance and Disorders

Family History and Pedigree Construction

Congenital Anomalies, Basic Dysmorphology, and Genetic Assessment

Enzyme and Collagen Disorders

Common Childhood-Onset Genetic Disorders

Common Adult-Onset Disorders

Cardiovascular Disorders

The Genetics of Cancer

Genetic Contributions to Psychiatric and Behavioral Disorders

Genetic and Genomic Testing

Assessing Genomic Variation in Drug Response

Health Professionals and Genomic Care

Financial, Ethical, Legal, and Social Considerations

Genetic and Genomic Variation

Filters

Exam 6: Autosomal Inheritance and Disorders

For a person who has any type of chromosomal abnormality, what factor(s) has/have the greatest impact on both physical and cognitive potential?

Which statement regarding partial chromosomal deletions or duplications reflects the cause of manifestations?

Which cancer type has an increased incidence among children with WAGR syndrome?

What is the risk for a woman who had a retinoblastoma in early childhood as a result of a partial deletion on one number 13 chromosome to have a child who also develops the disorder?

What is the best explanation for a person whose karyotype from blood cells shows nearly all cells to have trisomy 21 to have 10 clinical manifestations of Downsyndromeand an above-average intelligence?

Which factor has the greatest influence on the expression of a genetic disorder such as Prader-Willi syndrome or Angelman syndrome through the process of genomic imprinting?

How is a Robertsonian translocation different from a reciprocal translocation?

Which feature of a 15q deletion is present in both Angelman syndrome and Prader-Willi syndrome?

Why is Down syndrome the most common trisomy disorder seen among liveborn infants?

Which syndrome or condition represents monosomy?

Which reproductive consequence is possible for a man who has a 13;15 Robertsonian translocation when his wife has a normal karyotype?

Why does a person who has a deletion of the coding regions for five genes on one chromosome 15 have some manifestations or overt problems?

Which statement about partial deletions and duplications of autosomes is true?

What is the most likely explanation for a baby boy to have Tay-Sachs disease when the child's mother is not a carrier for the problem, but the father is a carrier?

Why does an embryo with a balanced translocation have the same chance for normal development that an embryo with a normal karyotype has?

Which chromosome is trisomic in Edward syndrome?

Which description is the best example of "genomic imprinting"?

What is the risk for a man who has Down syndrome to produce a child with Down syndrome with a woman who has a normal karyotype?

Which autosomal condition or syndrome commonly features a cleft lip and palate?

What is the best explanation of a child having the physical phenotype of Down syndrome but having a totally normal karyotype on chromosomal analysis of blood?

DNA Structure and Function

Protein Synthesis

Genetic Influence on Cell Division, Differentiation, and Gametogenesis

Patterns of Inheritance

Epigenetic Influences on Gene Expression

Sex Chromosome and Mitochondrial Inheritance and Disorders

Family History and Pedigree Construction

Congenital Anomalies, Basic Dysmorphology, and Genetic Assessment

Enzyme and Collagen Disorders

Common Childhood-Onset Genetic Disorders

Common Adult-Onset Disorders

Cardiovascular Disorders

The Genetics of Cancer

Genetic Contributions to Psychiatric and Behavioral Disorders

Genetic and Genomic Testing

Assessing Genomic Variation in Drug Response

Health Professionals and Genomic Care

Financial, Ethical, Legal, and Social Considerations

Genetic and Genomic Variation

Filters