Autosomal Inheritance And Disorders

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Question 1

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Multiple Choice

Which syndrome or condition represents monosomy?

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Patau syndrome

Turner syndrome

Robertsonian translocation

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Question 2

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Multiple Choice

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

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Angelman syndrome

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Edward syndrome

Prader-Willi syndrome

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Question 3

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

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A child inherits a trait that his paternal grandfather expressed but that his father did not express.

Boys can inherit only masculine traits from their fathers because women do not have a Y chromosome.

There is a qualitative difference in some gene alleles based on whether they are inherited from the mother or the father.

When the number of sex chromosomes is greater than normal, the resulting individual is most often infertile.

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Question 4

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

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The translocation stimulates DNA repair mechanisms to correct the problem before commitment occurs.

The embryo's somatic cells are unaffected, expressing a normal karyotype; only germline cells express the translocation.

Although the location of the genetic material is abnormal with a balanced translocation, there are no missing or extra alleles.

When a zygote with a balanced translocation reaches the embryo stage without a spontaneous abortion, the risk for abnormal development decreases.

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Question 5

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How is a Robertsonian translocation different from a reciprocal translocation?

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A Robertsonian translocation is unbalanced, and a reciprocal translocation is balanced.

A reciprocal translocation is unbalanced, and a Robertsonian translocation is balanced.

Reciprocal translocations occur between whole acrocentric chromosomes, and Robertsonian translocations occur between any two nonhomologous chromosomes.

Robertsonian translocations occur between whole acrocentric chromosomes, and reciprocal translocations occur between any two nonhomologous chromosomes.

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Question 6

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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?

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The deletions occurred in an autosome and not in a sex chromosome.

He or she has only one copy of the gene alleles, which results in reduced function.

The overall expression of the deleted areas is the same as if trisomy 15 were present.

The deleted areas are introns rather than exons; thus, no compensation occurred on the homologous chromosome.

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Question 7

Multiple Choice

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?

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The mother is not really the biological parent of this child.

The mother's normal gene allele is not expressed, and the father's Tay-Sachs allele is expressed.

A new mutation occurred in the father's sperm in which the Tay-Sachs gene has become dominant.

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.

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Question 8

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

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If one child in a family has the abnormality, the risk for recurrence is 50% with each pregnancy.

The aberration represents failure of chromosomal segregation during gametogenesis.

The underlying cause is random chromosome breakage and rearrangement.

The incidence increases with advancing maternal or paternal age.

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Question 9

Multiple Choice

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?

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The trisomy was a result of nondisjunction of paternal gametes instead of maternal gametes.

The person has pseudo-Down syndrome, in which environmental conditions caused the person to have development that mimics only the physical manifestations.

The person has genomic imprinting, in which the paternal number 21 chromosome is not expressed, and both maternally derived number 21 chromosomes are expressed.

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.

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Question 10

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

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He is unlikely to ever impregnate his wife.

Because his wife has a normal karyotype, there are no reproductive consequences.

He has an increased risk for having a child born with either trisomy 13 or trisomy 15.

He has an increased risk for having a child born with either monosomy 13 or monosomy 15.

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Question 11

Multiple Choice

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

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The extra alleles from trisomies of larger chromosomes are embryo lethal.

Nondisjunction occurs more frequently for chromosome 21 than for any other chromosome.

Trisomies resulting from nondisjunction express fewer alleles than trisomies that result from unbalanced translocations.

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.

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Question 12

Multiple Choice

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?

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100%

50%

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Question 13

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Which chromosome is trisomic in Edward syndrome?

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Question 14

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

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Prenatal testing and diagnosis

The number of affected family members

Personal family environment and social interaction

The number of chromosomes involved with the abnormality

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Question 15

Multiple Choice

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

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They result in either a triple dose of some gene alleles or a single dose of some alleles.

They usually result in fewer or milder manifestations than do trisomies or monosomies.

The manifestations are unpredictable because they commonly vary depending on parental origin.

General prenatal chromosomal analysis has resulted in fewer children being born with these problems.

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Question 16

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

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Acute leukemia

Brain tumors

Colorectal cancer

Nephroblastoma

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Question 17

Multiple Choice

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?

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100%

50%

25%

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Question 18

Multiple Choice

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

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Light skin, eye, and hair coloring

Continuous smiling and jerky gait

Excessive appetite and weight gain

Progressive tremors and seizure activity

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Question 19

Multiple Choice

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?

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Paternal age at time of conception

Maternal age at time of conception

The gender of the parent transmitting the deletion

The number of bases deleted from the chromosome

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Question 20

Multiple Choice

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?

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Mosaicism of trisomy 21 in various tissues

Inaccurate technique for chromosomal analysis

Uniparental disomy for somatic cells but not for germ cells

Selective chromosome loss during meiosis II of gametogenesis

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