Question 1

Increased sister chromatid exchange can be found in cells from people with which of the following disorders?

Accepted Answer

A)  Angelman syndrome 
B)  Fragile X syndrome 
C)  Bloom syndrome 
D)  Chromosome 22q11 deletion syndrome 
E)  Oculocutaneous albinism 
A)  Angelman syndrome 
B)  Fragile X syndrome 
C)  Bloom syndrome 
D)  Chromosome 22q11 deletion syndrome 
E)  Oculocutaneous albinism C

Question 2

Which of the following is the most common finding in chromosomal analysis of Down syndrome?

Accepted Answer

A)  Trisomy 21 with the extra copy being maternal in origin 
B)  Trisomy 21 with the extra copy being paternal in origin 
C)  Robertsonian translocation involving chromosome 21 
D)  Mosaicism for trisomy 21 
E)  A and B are equally likely 
A)  Trisomy 21 with the extra copy being maternal in origin 
B)  Trisomy 21 with the extra copy being paternal in origin 
C)  Robertsonian translocation involving chromosome 21 
D)  Mosaicism for trisomy 21 
E)  A and B are equally likely A

Question 3

Individuals with Klinefelter syndrome are usually infertile because...

Accepted Answer

A)  Their testes do not descend 
B)  They lack sperm in their semen 
C)  Their sperm are nonmotile 
D)  They exhibit feminization of their genitalia 
E)  Problems with non-disjunction 
A)  Their testes do not descend 
B)  They lack sperm in their semen 
C)  Their sperm are nonmotile 
D)  They exhibit feminization of their genitalia 
E)  Problems with non-disjunction B

Question 4

What determines whether a child with a chromosome 15q11-q13 deletion will have Angelman syndrome or Prader-Willi syndrome?

Accepted Answer

A)  The size of the deletion 
B)  The location of the 3' border of the deletion 
C)  The location of the 5' border of the deletion 
D)  The parent of origin of the deletion 
E)  Variation in a gene on a different chromosome 
A)  The size of the deletion 
B)  The location of the 3' border of the deletion 
C)  The location of the 5' border of the deletion 
D)  The parent of origin of the deletion 
E)  Variation in a gene on a different chromosome

Question 5

What is the most common defect causing male pseudohermaphroditism?

Accepted Answer

A)  Lack of testosterone production 
B)  Defective androgen receptors 
C)  Mosaicism for 45,X/46,XY 
D)  Inappropriate estrogen expression 
E)  Loss of Y chromosome pseudoautosomal region 
A)  Lack of testosterone production 
B)  Defective androgen receptors 
C)  Mosaicism for 45,X/46,XY 
D)  Inappropriate estrogen expression 
E)  Loss of Y chromosome pseudoautosomal region

Question 6

Which of the following is a definite indication for chromosome analysis?

Accepted Answer

A)  Multiple congenital abnormalities 
B)  Diaphragmatic hernia 
C)  Single palmar crease 
D)  Cleft lip 
E)  All of the above 
A)  Multiple congenital abnormalities 
B)  Diaphragmatic hernia 
C)  Single palmar crease 
D)  Cleft lip 
E)  All of the above

Question 7

What molecular feature of the chromosome 22q11 region leads to its propensity for deletions?

Accepted Answer

A)  High GC content 
B)  The presence of a fragile site 
C)  It is flanked by low copy repeats 
D)  It is imprinted 
E)  Secondary structure of the DNA 
A)  High GC content 
B)  The presence of a fragile site 
C)  It is flanked by low copy repeats 
D)  It is imprinted 
E)  Secondary structure of the DNA

Question 8

Which of the following is true of Fragile X syndrome?

Accepted Answer

A)  Affected individuals have testicular atrophy beginning at puberty 
B)  Accurate prenatal diagnosis of full-mutation females is available 
C)  Premutation carriers show no phenotypic effects 
D)  Expansion of premutation alleles occurs primarily during spermatogenesis 
E)  It is almost always associated with a trinucleotide expansion in the 5' untranslated portion of FMR1 
A)  Affected individuals have testicular atrophy beginning at puberty 
B)  Accurate prenatal diagnosis of full-mutation females is available 
C)  Premutation carriers show no phenotypic effects 
D)  Expansion of premutation alleles occurs primarily during spermatogenesis 
E)  It is almost always associated with a trinucleotide expansion in the 5' untranslated portion of FMR1

Question 9

Which of the following is the most common inherited cause of learning difficulties?

Accepted Answer

A)  Fragile X syndrome 
B)  Down syndrome 
C)  Turner syndrome 
D)  Klinefelter syndrome 
E)  Williams syndrome 
A)  Fragile X syndrome 
B)  Down syndrome 
C)  Turner syndrome 
D)  Klinefelter syndrome 
E)  Williams syndrome

Question 10

Which of the following is a major risk factor for Down syndrome?

Accepted Answer

A)  Folic acid exposure 
B)  Hyperthermia during the first trimester 
C)  Toxoplasmosis infection during pregnancy 
D)  Advanced maternal age 
E)  Any of the above 
A)  Folic acid exposure 
B)  Hyperthermia during the first trimester 
C)  Toxoplasmosis infection during pregnancy 
D)  Advanced maternal age 
E)  Any of the above

Increased sister chromatid exchange can be found in cells from people with which of the following disorders?

Which of the following is the most common finding in chromosomal analysis of Down syndrome?

Individuals with Klinefelter syndrome are usually infertile because...

What determines whether a child with a chromosome 15q11-q13 deletion will have Angelman syndrome or Prader-Willi syndrome?

What is the most common defect causing male pseudohermaphroditism?

Which of the following is a definite indication for chromosome analysis?

What molecular feature of the chromosome 22q11 region leads to its propensity for deletions?

Which of the following is true of Fragile X syndrome?

Which of the following is the most common inherited cause of learning difficulties?

Which of the following is a major risk factor for Down syndrome?

The History and Impact of Genetics in Medicine

The Cellular and Molecular Basis of Inheritance

Chromosomes and Cell Division

Dna Technology and Applications

Mapping and Identifying Genes for Monogenic Disorders

Developmental Genetics

Patterns of Inheritance

Population and Mathematical Genetics

Polygenic and Multifactorial Inheritance

Hemoglobin and the Hemoglobinopathies

Biochemical Genetics

Pharmacogenetics

Immunogenetics

Cancer Genetics

Genetic Factors in Common Diseases

Congenital Abnormalities and Dysmorphic Syndromes

Genetic Counseling

Single-Gene Disorders

Screening for Genetic Disease

Prenatal Testing and Reproductive Genetics

Risk Calculation

Treatment of Genetic Disease

Ethical and Legal Issues in Medical Genetics

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Exam 18: Chromosome Disorders

Increased sister chromatid exchange can be found in cells from people with which of the following disorders?

Which of the following is the most common finding in chromosomal analysis of Down syndrome?

Individuals with Klinefelter syndrome are usually infertile because...

What determines whether a child with a chromosome 15q11-q13 deletion will have Angelman syndrome or Prader-Willi syndrome?

What is the most common defect causing male pseudohermaphroditism?

Which of the following is a definite indication for chromosome analysis?

What molecular feature of the chromosome 22q11 region leads to its propensity for deletions?

Which of the following is true of Fragile X syndrome?

Which of the following is the most common inherited cause of learning difficulties?

Which of the following is a major risk factor for Down syndrome?

The History and Impact of Genetics in Medicine

The Cellular and Molecular Basis of Inheritance

Chromosomes and Cell Division

Dna Technology and Applications

Mapping and Identifying Genes for Monogenic Disorders

Developmental Genetics

Patterns of Inheritance

Population and Mathematical Genetics

Polygenic and Multifactorial Inheritance

Hemoglobin and the Hemoglobinopathies

Biochemical Genetics

Pharmacogenetics

Immunogenetics

Cancer Genetics

Genetic Factors in Common Diseases

Congenital Abnormalities and Dysmorphic Syndromes

Genetic Counseling

Single-Gene Disorders

Screening for Genetic Disease

Prenatal Testing and Reproductive Genetics

Risk Calculation

Treatment of Genetic Disease

Ethical and Legal Issues in Medical Genetics

Filters