Sex Chromosome And Mitochondrial Inheritance And Disorders

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Question 1

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Multiple Choice

Which feature is common among people who have Klinefelter syndrome (47,XXY) or a karyotype with 47,XXX but not among people who have Down syndrome or Edward syndrome?

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Severely reduced cognition

Cleft palate

Tall stature

Infertility

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Question 2

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Multiple Choice

Which single physical feature is most often associated with a 47,XXX karyotype?

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Infertility

Large breasts

Female-pattern baldness

Height greater than siblings

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Question 3

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Multiple Choice

What is the risk for a man with a 47,XYY karyotype to produce a child with a 47,XYY karyotype?

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100%

50%

25%

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Question 4

Free

Multiple Choice

Why is the incidence of an extra Y chromosome in the general population unknown?

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The phenotype is that of a normal male.

Most conceptions with 47,XYY are spontaneously aborted.

The life expectancy for males with 47,XYY is often short.

The majority of males with this sex chromosome abnormality are institutionalized.

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Question 5

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Multiple Choice

Amale patient is tall and has some gynecomastia along with a low sperm count. During infertility testing, he was found to have a 47,XXY karyotype. Which disorder isconsistent with these findings?

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Normal male

Turner syndrome

Klinefelter syndrome

Testicular feminization syndrome

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Question 6

Multiple Choice

Which health screening activity is most important for girls and women with Turner syndrome?

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Mammography

Test for osteoarthritis

Blood pressure screening

Pulmonary function testing

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Question 7

Multiple Choice

What is the most likely mechanism for a 45,X karyotype?

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Anticipation

Nondisjunction

Expansion

Heteroplasmy

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Question 8

Multiple Choice

Which of the following definitions accurately represents the concept of expansion?

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The phenotype of a genetic condition is expressed with greater severity and at earlier ages with succeeding generations.

The number of trinucleotide repeat sequences within the noncoding region of a specific gene allele is increased.

The number of copies of a specific gene allele is amplified on one chromosome of a homologous pair.

A specific gene allele has at least two copies of every exon within the gene.

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Question 9

Multiple Choice

What is the function of the FMR1 gene?

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Promoting brain development and maintaining neuronal synapses

Ensuring the expression of all other genes present on the X chromosome

Preventing amyloid plaque deposits and formation of neuronal tangles in the brain

Maintaining the structural integrity of the histone proteins surrounding the X chromosome

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Question 10

Multiple Choice

At what specific location on an X chromosome is a break most likely to occur in fragile X syndrome?

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The centromere

End of the p arm

End of the q arm

Within the nucleosome

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Question 11

Multiple Choice

Which of the following mechanisms in fragile X syndrome (FXS) leads to expression of the disorder?

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Trinucleotide repeat sequences interspersed with the exons of the FMR1 gene, resulting in the production of an abnormal protein

Trinucleotide repeat sequences causing methylation of the FMR1 gene, thus silencing its expression

Increased production of microRNA molecules that interfere with the transcription of the FMR1 gene

Increased production of microRNA molecules that interfere with the translation of the FMR1 gene

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Question 12

Multiple Choice

Which condition or health problem is more common in women who have an FMR1 mutation?

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Emotional instability with inappropriate expression of anger

Patchy areas of decreased skin pigmentation

Progressive skeletal muscle weakness

Menopause before age 40 years

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Question 13

Multiple Choice

What would be the expected consequence to two daughter cells after mitosis if the ability to produce mitochondria was lost?

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Cell commitment and differentiation would fail to occur.

The process of protein synthesis could not be controlled.

The rate and amount of ATP production would be limited.

Future cell division would result in an uneven number of cells.

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Question 14

Multiple Choice

Which clinical feature in a newborn baby girl suggests the possibility of Turner syndrome?

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Absence of Babinski reflex

Presence of a webbed neck

Presence of epicanthal folds

Absence of irises of both eyes

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Question 15

Multiple Choice

Which trait or characteristic in a 10-year-old-girl would lead her pediatrician to consider the possibility of androgen insensitivity syndrome?

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Her ears are large and stick out.

She is color-blind, and her father is not.

She is an inch taller than her siblings were at age 10.

Her nipples and breasts have not started to change and develop.

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Question 16

Multiple Choice

Which type of problem results from mutations in mitochondrial DNA (mtDNA)?

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Reduced cellular energy

Balanced translocations

Excessive "crossing over"

Single-nucleotide polymorphisms

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Question 17

Multiple Choice

What factor most strongly influences the development of the paramesonephric tissue into female sex organs?

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Proper positioning of the bipotential gonad

The presence of estrogen during puberty

The presence of two X chromosomes

The absence of a Y chromosome

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Question 18

Multiple Choice

Which process can cause a person with an XY genotype to have a female phenotype?

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Pregnancy resulting from artificial insemination in which the semen donor is homosexual

Mating of a man who has Klinefelter syndrome with a woman who has Turner syndrome

An epigenetic disorder in which the X chromosome inactivates the Y chromosome

Failure of gene expression resulting in a complete absence of androgen receptors

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Question 19

Multiple Choice

On which chromosome is the androgen receptor (AR) gene located?

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Question 20

Multiple Choice

A man and his sister are both affected with a mitochondrial disorder. Because the sister has two children who also have the disorder, the man is concerned about thepossibility of also having children with the disorder. What is the estimated risk for each pregnancy of this man producing a child with the same mitochondrial disorder that he has if his wife does not have a mitochondrial disorder?

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100%

50%

25%

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