Ch 12-2 Flashcards

1
Q

Linked genes are inherited together at ______ rates than unlinked genes.

A

Higher

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2
Q

The recombination frequency for unlinked genes is ______%.

A

50

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3
Q

______ is the process that alters allelic combinations during prophase I of meiosis.

A

Crossing over

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4
Q

___ results from the fertilization of an abnormal diploid egg.

A

Triploidy

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5
Q

______ is the transfer of a chromosome segment to another chromosome.

A

Translocation

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6
Q

______ and ______ are common means of fetal testing.

A

Amniocentesis, chorionic villus sampling

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7
Q

Down syndrome is caused by ______ of chromosome 21.

A

Trisomy

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8
Q

The frequency of aneuploidy increases with ______ age.

A

Maternal

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9
Q

Klinefelter syndrome is characterized by the ______ karyotype.

A

Xxy

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10
Q

Wolf-Hirschhorn Syndrome is caused by a deletion in chromosome ______.

A

4

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11
Q

What is the recombination frequency for completely linked genes?
a) 0%
b) 25%
c) 50%
d) 100%

A

A

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12
Q

Which of the following is NOT a type of structural chromosomal alteration?
a) Deletion
b) Duplication
c) Inversion
d) Nondisjunction

A

D

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13
Q

What is the karyotype for Turner syndrome?
a) XXY
b) XO
c) XXX
d) XYY

A

B

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14
Q

Which syndrome is associated with a deletion on chromosome 5?
a) Down syndrome
b) Turner syndrome
c) Cri du chat syndrome
d) Wolf-Hirschhorn syndrome

A

C

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15
Q

What is the maximum recombination frequency for linked genes?
a) 25%
b) 50%
c) 75%
d) 100%

A

B

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16
Q

Which of the following is a viable monosomy in humans?
a) Monosomy 21
b) Monosomy X
c) Monosomy 18
d) Monosomy Y

A

B

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17
Q

What type of chromosomal alteration results in the Philadelphia chromosome?
a) Deletion
b) Duplication
c) Inversion
d) Translocation

A

D

18
Q

Which condition is associated with three X chromosomes?
a) Turner syndrome
b) Klinefelter syndrome
c) XXX syndrome
d) XYY syndrome

A

C

19
Q

What is the frequency of Klinefelter syndrome in individual births?
a) 1/100
b) 1/500 to 1/1000
c) 1/2500
d) 1/10000

A

B

20
Q

Which process is responsible for the formation of gametes with abnormal chromosome numbers?
a) Mitosis
b) Nondisjunction
c) Crossing over
d) Independent assortment

A

B

21
Q

True or False: Completely linked genes always result in recombinant offspring.

A

False. Completely linked genes result in all offspring being parental type.

22
Q

True or False: Aneuploidy is the most common reason for early stage pregnancy loss.

A

T

23
Q

True or False: Polyploidy is well-tolerated in humans.

A

False. Polyploidy is not tolerated in humans but is tolerated by some other organisms.

24
Q

True or False: Inversions always result in a change in gene copy number.

A

False. Inversions do not change gene copy number but may alter gene regulation.

25
Q

True or False: The frequency of aneuploidy decreases with maternal age.

A

False. The frequency of aneuploidy increases with maternal age.

26
Q

True or False: XYY individuals typically show no phenotypic effects.

A

T

27
Q

True or False: Turner syndrome is the only known viable monosomy in humans.

A

T

28
Q

True or False: Cri du chat syndrome is caused by a duplication on chromosome 5.

A

False. Cri du chat syndrome is caused by a deletion on chromosome 5.

29
Q

True or False: Nondisjunction can occur during both meiosis and mitosis.
.

A

T

30
Q

True or False: The Philadelphia chromosome is associated with Down syndrome.

A

False. The Philadelphia chromosome is associated with chronic myelogenous leukemia (CML).

31
Q

What is complete linkage?

A

Genes on the same chromosome, very close together, resulting in 0% recombination and all offspring being parental type.

32
Q

Define aneuploidy.

A

An abnormal chromosome number due to nondisjunction, resulting in either monosomy (one copy) or trisomy (three copies) of a chromosome.

33
Q

What is the Philadelphia chromosome?

A

A chromosomal alteration resulting from a translocation, implicated in chronic myelogenous leukemia (CML).

34
Q

What is a centiMorgan?

A

A unit of genetic distance equal to 1% recombination frequency or 1 map unit.

35
Q

What is polyploidy?

A

The presence of more than two complete sets of chromosomes in all somatic cells.

36
Q

What is Turner syndrome?

A

A condition resulting from monosomy X (XO), occurring in 1/2500 births and generally causing sterility.

37
Q

What causes Cri du chat syndrome?

A

A deletion on chromosome 5, resulting in a characteristic cat-like cry and intellectual disability.

38
Q

What is mosaicism?

A

A condition where an individual has two or more genetically distinct cell populations, often due to mitotic nondisjunction.

39
Q

What is a karyotype?

A

A visual representation of an individual’s chromosomes, arranged by size and banding pattern.

40
Q

What is the Barr body?

A

The inactivated and condensed X-chromosome in XX individuals.