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Cytogenetics > Chromosomes and Banding > Flashcards

Chromosomes and Banding Flashcards

1
Q

A human genome has 20,000-

plus protein-encoding genes dispersed among 24 chromosome types. True or False

A

True

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2
Q

a rare event that spontaneously shatters a chromosome.

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Chromothripsis

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3
Q

range from single-base changes to entire extra sets of chromosomes.

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Mutations

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4
Q

A mutation is considered a chromosomal aberration if it is large enough to be seen with a light microscope using stains and/or fluorescent probes to highlight missing, extra, or moved genetic material. True or False

A

True

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5
Q

consists primarily of DNA and proteins with a small amount of RNA.

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Chromosome

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6
Q

dark-colored and consists mostly of highly repetitive DNA sequences.

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Heterochromatin

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7
Q

light-colored and has many protein-encoding sequence.

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Euchromatin

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8
Q

The essential parts of a chromosome are Telomeres, Centromeres, and Origin of replication sites, where replication forks begin to form. True or False

A

True

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9
Q

chromosome tips

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Telomeres

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10
Q

In humans, each telomere repeats the sequence TTTAGG. True or False

A

False -TTAGGG

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11
Q

The largest constriction of a chromosome. It is where spindle fibers attach when the cell divides.

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Centromere

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12
Q

contacts the spindle fibers, enabling the cell to divide.

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Kinetochore

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13
Q

Certain centromere-associated proteins are synthesized only when mitosis is imminent, forming a structure called a Telomeres. True or False

A

False - Kinetochore

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14
Q

Centromeres replicate toward the end of the M phase of the cell cycle. True or False

A

False - S phase

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15
Q

___________ is a gene “desert”, harboring a million-base stretch with no protein-encoding and genes at all. It contains 225 genes

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Chromosome 21

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16
Q

__________ is a gene “jungle”. It contains 545 genes.

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Chromosome 22

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17
Q

chromosome parts that lie between protein-rich areas and the telomeres.

CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22

A

Subtelomeres

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18
Q

At least 500 protein-encoding genes lie in the subtelomeres. True or False

A

True

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19
Q

It can reveal certain conditions that DNA sequencing can miss.

CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy

A

Karyotype

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20
Q

The 24 human chromosome types are numbered from smallest to largest— 1 to 22. The two other chromosomes are X and Y. True or False

A

False - largest to smallest

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21
Q

a karyotype with one extra chromosome.

CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy

A

Trisomy

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22
Q

It displays chromosomes in pairs by size and by physical landmarks that appear during mitotic metaphase, when DNA coils tightly, enabling it to be visualized.

CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy

A

Karyotype

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23
Q

Centromere position is one physical feature of chromosomes. True or False

A

True

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24
Q

the centromere establishes one long arm and one short arm.

CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy

A

Submetacentric

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25
Q

the centromere divides the chromosome into two arms of approximately equal length.

CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy

A

Metacentric

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26
Q

The long arm is designated as ___

CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy

A

q

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27
Q

The short arm is designated as ___

CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy

A

p

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28
Q

it pinches off only a small amount of material toward one end.

CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy

A

Acrocentric

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29
Q

the centromere is near one end, although telomere DNA sequences are at the tip. Also, humans do not have these chromosomes.

CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy

A

Telocentric

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30
Q

blob-like ends, found in five human chromosomes, that extend from a thinner, stalklike bridge from the rest of the chromosome.

CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy

A

Satellites

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31
Q

Satellites are can be found in chromosomes 11, 12, 17, 21, 22. True or False

A

False - chromosomes 13, 14, 15, 21, 22

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32
Q

The stalk regions do not bind stains well. True or False

A

True

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33
Q

_______ of prenatal testing collects small pieces of DNA from the maternal bloodstream that are from the placenta and sequences it.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

Direct method

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34
Q

_________ detect changes in levels of biochemicals or rely on clinical findings associated with a particular chromosomal condition.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

Indirect method

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35
Q

a labeled piece of DNA that binds its complement

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

DNA probe

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36
Q

First fetal karyotype using __________ was constructed in 1966.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

amniocentesis

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37
Q

During the 10th through 12th weeks of pregnancy, chorionic villus sampling obtains cells from the _________.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

chorionic villi

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38
Q

slightly less accurate and in about 1 in 1,000 to 3,000 procedures, it halts development of the feet and/or hands and may be lethal.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

chorionic villus sampling

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39
Q

It is usually performed between 14 and 16 weeks of gestation when the fetus is not yet very large but amniotic fluid is plentiful.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

amniocentesis

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40
Q

The advantage of it is earlier results, but the disadvantage is a greater risk of spontaneous abortion. However, it has become much safer in recent years.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

chorionic villus sampling

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41
Q

The basis of CVS is that chorionic villus cells descend from the fertilized ovum, so their chromosomes should be identical to those of the embryo and fetus. True or False

A

True

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42
Q

Amniocentesis is recommended if the risk that the fetus has a detectable condition exceeds the risk that the procedure will cause a miscarriage. True or False

A

True

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43
Q

The first karyotypes used dyes to stain chromosomes a uniform color. True or False

A

True

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44
Q

introduced the ability to highlight individual genes.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

Fluorescence in situ hybridization (FISH)

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45
Q

shows chromosome arms (p is short and q is long) and numbered regions, called bands, and subbands.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

Ideogram

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46
Q

It is used to trace the fate of chromosomes that have undergone chromothripsis.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

digital karyotype

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47
Q

To obtain chromosomes for karyotyping, cells are collected, cultured, halted at metaphase, broken open on a glass slide, and the chromosomes spread over the surface and stained or probed. True or False

A

True

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48
Q

It reveals the extra chromosome 21 in cells from a fetus with trisomy 21 Down syndrome — three dots.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

Fluorescence in situ hybridization (FISH)

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49
Q

It can “paint” entire karyotypes by probing each chromosome with several different fluorescent molecules.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

Fluorescence in situ hybridization (FISH)

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50
Q

more targeted than conventional chromosome staining because it uses DNA probes.

CHOICES:
DNA probe, amniocentesis, chorionic villus sampling, Ideogram, digital karyotype, Fluorescence in situ hybridization (FISH), chorionic villi, Indirect method, Direct method

A

Fluorescence in situ hybridization (FISH)

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51
Q

Normal male

CHOICES:
48, XXYY - 46, XY, t(7;9)(p21.1;q34.1) - 46, XY, del(7q) - 47, XXY - 46, XX - 46, XY - 45, X - 47, XX, +21

A

46, XY

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52
Q

Normal female

CHOICES:
48, XXYY - 46, XY, t(7;9)(p21.1;q34.1) - 46, XY, del(7q) - 47, XXY - 46, XX - 46, XY - 45, X - 47, XX, +21

53
Q

Turner syndrome (female)

CHOICES:
48, XXYY - 46, XY, t(7;9)(p21.1;q34.1) - 46, XY, del(7q) - 47, XXY - 46, XX - 46, XY - 45, X - 47, XX, +21

54
Q

Klinefelter syndrome (male)

CHOICES:
48, XXYY - 46, XY, t(7;9)(p21.1;q34.1) - 46, XY, del(7q) - 47, XXY - 46, XX - 46, XY - 45, X - 47, XX, +21

55
Q

a male missing part of the long arm of chromosome 7

CHOICES:
48, XXYY - 46, XY, t(7;9)(p21.1;q34.1) - 46, XY, del(7q) - 47, XXY - 46, XX - 46, XY - 45, X - 47, XX, +21

A

46, XY, del(7q)

56
Q

a female with trisomy 21 Down syndrome

CHOICES:
48, XXYY - 46, XY, t(7;9)(p21.1;q34.1) - 46, XY, del(7q) - 47, XXY - 46, XX - 46, XY - 45, X - 47, XX, +21

A

47, XX, +21

57
Q

a male with a translocation between the short arm of chromosome 7 at band 21.1 and the long arm of chromosome 9 and band 34.1

CHOICES:
48, XXYY - 46, XY, t(7;9)(p21.1;q34.1) - 46, XY, del(7q) - 47, XXY - 46, XX - 46, XY - 45, X - 47, XX, +21

A

46, XY, t(7;9)(p21.1;q34.1)

58
Q

a male with an extra X and an extra Y chromosome

CHOICES:
48, XXYY - 46, XY, t(7;9)(p21.1;q34.1) - 46, XY, del(7q) - 47, XXY - 46, XX - 46, XY - 45, X - 47, XX, +21

59
Q

biochemicals whose levels in the blood are within a certain range in a pregnant woman carrying a fetus with the normal number of chromosomes, but lie outside that range in fetuses whose cells have an extra copy of a certain chromosome.

CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers

A

Maternal serum markers

60
Q

part of the brain or spinal cord protrudes.

CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers

A

Neutral tube defects (NTD)

61
Q

In the 1980s, a researcher who had a child with an NTD developed a test based on the finding that the level of alpha fetoprotein (AFP) is lower in fetuses with an open neural tube defect. True or False

A

False - higher

62
Q

made in the yolk sac and leaves the fetal circulation and enters the maternal bloodstream at a certain rate.

CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers

A

Alpha fetoprotein

63
Q

Testing DNA can detect certain fetal chromosomal abnormalities, like some of the trisomy conditions. True or False

64
Q

A human karyotype is atypical (abnormal) if the number of chromosomes in a germ cell
is not 46, or if individual chromosomes have extra, missing, or rearranged genetic material. True or False

A

False - somatic cell

65
Q

a cell with an extra set of chromosomes.

CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers

66
Q

An individual whose cells have three copies of each chromosome is a _______

CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers

67
Q

Cells missing a single chromosome or having an extra chromosome; “not good set”.

CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers

68
Q

a normal chromosome number; “good set”.

CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers

69
Q

cells with one missing chromosome.

CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers

70
Q

a meiotic error that causes aneuploidy.

CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers

A

Nondisjunction

71
Q

In monosomy, a chromosome pair does not separate at anaphase of either first or second meiotic division. True or False

A

False - Nondisjunction

72
Q

Most autosomal aneuploids cease developing long before birth. True or False

73
Q

The most common autosomal aneuploidy among liveborn because this chromosome has the fewest genes.

CHOICES:
Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 18, Trisomy 13, Trisomy 21

A

Trisomy 21

74
Q

Many people with Down syndrome have physical problems, including heart and kidney defects and hearing and visual loss. True or False

75
Q

trisomy 21 is also known as the _______

CHOICES:
Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 18, Trisomy 13, Trisomy 21

A

Down syndrome

76
Q

trisomy 18 is also known as the _______

CHOICES:
Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 18, Trisomy 13, Trisomy 21

A

Edwards syndrome

77
Q

trisomy 13 is also known as the _______

CHOICES:
Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 18, Trisomy 13, Trisomy 21

A

Patau syndrome

78
Q

Most individuals with trisomy 16 (Edwards syndrome) or trisomy 13 (Patau syndrome) are not born or die in infancy, but a few have lived into young adulthood. True or False

A

False - trisomy 18 (Edwards syndrome)

79
Q

Most children who have __________ have great physical and intellectual disabilities, with developmental skills stalled at the 6-month level.

CHOICES:
Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 18, Trisomy 13, Trisomy 21

A

Trisomy 18

80
Q

Most cases of trisomy 18 arise from nondisjunction in meiosis
II of the oocyte. True or False

81
Q

Fusion of the developing eyes into one large eyelike structure in the center of the face, or a small or absent eye.

CHOICES:
Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 18, Trisomy 13, Trisomy 21

A

Trisomy 13

82
Q

In trisomy 13, The nose is often malformed, and cleft lip and/or palate are present in a small head. There may be extra fingers and toes. True or False

83
Q

Sex chromosome aneuploids are generally associated with much more severe symptoms and characteristics than autosomal aneuploids. True or False

A

False - lesser severe symptoms

84
Q

more frequent among spontaneously aborted fetuses than among newborns—99 percent of fetuses with this syndrome are not born.

CHOICES:
XO syndrome (turner), XXYY syndrome, Barr bodies, XXY syndrome, Triplo-X
A

XO syndrome (turner)

85
Q

At birth, a girl with XO syndrome looks normal, except for puffy hands and feet caused by impaired blood flow. True or False

A

False - impaired lymph flow

86
Q

In childhood, signs of XO
syndrome include wide-set
nipples, soft nails that turn up
at the tips, slight webbing at the back of the neck, short stature, coarse facial features, and a low hairline. True or False

87
Q

Symptoms include small stature and menstrual irregularities

CHOICES:
XO syndrome (turner), XXYY syndrome, Barr bodies, XXY syndrome, Triplo-X
88
Q

the most common genetic or chromosomal cause of male infertility.

CHOICES:
XO syndrome (turner), XXYY syndrome, Barr bodies, XXY syndrome, Triplo-X
A

XXY syndrome

89
Q

Severely affected men of XXY syndrome are sexually underdeveloped, with rudimentary testes and prostate glands and sparse pubic and facial hair. True or False

90
Q

Attention deficit disorder, obsessive-compulsive disorder, autism, and learning disabilities typically develop by adolescence. What syndrome is this?

CHOICES:
XO syndrome (turner), XXYY syndrome, Barr bodies, XXY syndrome, Triplo-X
A

XXYY syndrome

91
Q

A man with XXYY syndrome is fertile. True or False

A

False - infertile

92
Q

XYY syndrome arises from monosomy in the male, producing a sperm with two Y chromosomes that fertilize a normal oocyte. True or False

A

False - nondisjunction

93
Q

It represents the X chromosome that is inactive

CHOICES:
XO syndrome (turner), XXYY syndrome, Barr bodies, XXY syndrome, Triplo-X
A

Barr bodies

94
Q

Deletion and duplication mutations are missing and extra DNA sequences, respectively. They are types of copy number variants (CNVs). The more genes involved, the more severe the associated syndrome. True or False

95
Q

used to detect very small CNVs, which are also termed microdeletions and microduplications.

CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)

A

Comparative genomic hybridization (CGH)

96
Q

It is used to help diagnose autism, intellectual disability, learning disabilities, and other behavioral conditions.

CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)

A

Comparative genomic hybridization (CGH)

97
Q

Short arm of chromosome 4, Wolf-Hirschhorn syndrome

CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)

A

Deletion (Interstitial)

98
Q

Gene encoding peripheral myelin protein 22 on chromosome 17

CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)

A

Duplication

99
Q

End terminus of the long arm of chromosome 11, Jacobsen syndrome

CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)

A

Deletion (Terminal)

100
Q

Charcot-Marie-Tooth

CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)

A

Duplication

101
Q

Short arm of chromosome 5, Cri du chat (cat cry) syndrome

CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)

A

Deletion (Terminal)

102
Q

Inverted champagne bottle

CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)

A

Duplication

103
Q

__________ can be inherited because they can be present in carriers, who have the normal amount of genetic material but are rearranged.

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Translocations

104
Q

the short arm of two different acrocentric chromosomes breaks, leaving sticky ends on the two long arms that join, forming a single, large chromosome with two long arms.

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Robertsonian translocation

105
Q

a person with a large, translocated chromosome.

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Translocation carrier

106
Q

A translocation carrier has 45 chromosomes instead of 46, but may not have symptoms if no crucial genes have been deleted or damaged. True or False

107
Q

In 1 out of 20 cases of
Down syndrome, a parent has
Robertsonian translocation between chromosome 21 and another, usually on chromosome 13. True or False

A

False - Chromosome 21 and 14

108
Q

Robertsonian homozygotes have 47 chromosomes rather than the normal 46. True or False

A

False - 44 chromosomes

109
Q

the second major type of translocation; two different chromosomes exchange parts.

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Reciprocal translocation

110
Q

Reciprocal translocation usually occurs in specific chromosomes that have unstable parts. True or False

111
Q

A rare type of translocation, in which part of one chromosome inserts into a nonhomologous chromosome.

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Insertional translocation

112
Q

A carrier of any type of translocation can produce unbalanced gametes—sperm or oocytes that have deletions or duplications of some of the genes in the translocated chromosomes. True or False

113
Q

Specific effects of an inverted chromosome may depend upon which genes the flip disrupts. True or False

114
Q

A crossover in the inversion loop produces two chromatids that have duplications and deletions, but one centromere each, plus one normal and one inversion chromatid.

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Pericentric inversion

115
Q

the inverted section does not include the centromere.

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Paracentric inversion

116
Q

result of another meiotic error that leads to unbalanced genetic material

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Isochromosome

117
Q

may arise when telomeres are lost, leaving sticky ends that adhere.

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Ring chromosomes

118
Q

Isochromosomes are known for chromosomes 12 and 21 and for the long arms of the X and Y. True or False

119
Q

inheriting two chromosomes or chromosome segments from one parent.

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Uniparental disomy (UPD),

120
Q

The classic example of UPD disrupting imprinting is Prader- Willi syndrome and Angelman syndrome. True or False

121
Q

unrestrained proliferation and migration of cells

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

122
Q

BCR-ABL oncoprotein is a tyronise kinase that excessively stimulates cell division. True or False

123
Q

Product of an oncogene

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

124
Q

Most patients have a translocated Philadelphia chromosome (tip of 9 on 22)

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Chronic myelogenous leukemia

125
Q

On her 2, Tyronise kinase receptors send too few signals to divide. True or False

A

False - too many signals

126
Q

Cancer can be caused by loss
Part of the genome
or silencing of a suppressor gene. True or False

127
Q

A rare childhood eye tumor

CHOICES:
Pericentric inversion, Paracentric inversion, Uniparental disomy (UPD), Her 2, Chronic myelogenous leukemia, Retinoblastoma, Cancer, Ring chromosomes, Isochromosome, Insertional translocation, Reciprocal translocation, Translocation carrier, Robertsonian translocation, Translocations

A

Retinoblastoma

128
Q

In sporadic cases of Retinoblastoma, two somatic mutations occur, one on each copy of chromosome 15. True or False

A

False - chromosome 13

Cytogenetics (12 decks)

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