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Exam 5: Chromosomal and Mitochondrial Inheritance and Disorders

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Question 1

Multiple Choice

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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?

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

E) All of the above
F) C) and D)

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Question 2

Multiple Choice

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

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.

E) A) and B)
F) C) and D)

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A

Question 3

Multiple Choice

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

How is a Robertsonian translocation different from a reciprocal translocation?

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

Which clinical feature is a common finding for infants with trisomy 21,trisomy 18,and trisomy 13?

Which statement regarding partial chromosomal deletions or duplications is true?

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

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

A male 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 is consistent with these findings?

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?

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

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

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

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

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?

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

Which type of problems result from mutations in mitochondrial DNA (mtDNA) ?

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 the possibility 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?