Chromosomes and Banding Flashcards
(128 cards)
1
Q
A human genome has 20,000-
plus protein-encoding genes dispersed among 24 chromosome types. True or False
A
True
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
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
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
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
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
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
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
9
Q
chromosome tips
CHOICES:
Subtelomeres, Euchromatin, Heterochromatin, Mutations, Chromothripsis, Chromosome, Telomeres, Centromere, Kinetochore, Chromosome 20, Chromosome 21, Chromosome 22
A
Telomeres
10
Q
In humans, each telomere repeats the sequence TTTAGG. True or False
A
False -TTAGGG
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
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
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
14
Q
Centromeres replicate toward the end of the M phase of the cell cycle. True or False
A
False - S phase
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
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
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
18
Q
At least 500 protein-encoding genes lie in the subtelomeres. True or False
A
True
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
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
21
Q
a karyotype with one extra chromosome.
CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy
A
Trisomy
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
23
Q
Centromere position is one physical feature of chromosomes. True or False
A
True
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
25
the centromere divides the chromosome into two arms of approximately equal length.
CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy
Metacentric
26
The long arm is designated as ___
CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy
q
27
The short arm is designated as ___
CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy
p
28
it pinches off only a small amount of material toward one end.
CHOICES:
Submetacentric, Metacentric, q, p, d, b, Telocentric, Satellites, Acrocentric, Karyotype, Trisomy
Acrocentric
29
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
Telocentric
30
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
Satellites
31
Satellites are can be found in chromosomes 11, 12, 17, 21, 22. True or False
False - chromosomes 13, 14, 15, 21, 22
32
The stalk regions do not bind stains well. True or False
True
33
_______ 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
Direct method
34
_________ 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
Indirect method
35
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
DNA probe
36
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
amniocentesis
37
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
chorionic villi
38
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
chorionic villus sampling
39
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
amniocentesis
40
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
chorionic villus sampling
41
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
True
42
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
True
43
The first karyotypes used dyes to stain chromosomes a uniform color. True or False
True
44
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
Fluorescence in situ hybridization (FISH)
45
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
Ideogram
46
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
digital karyotype
47
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
True
48
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
Fluorescence in situ hybridization (FISH)
49
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
Fluorescence in situ hybridization (FISH)
50
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
Fluorescence in situ hybridization (FISH)
51
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
46, XY
52
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
46, XX
53
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
45, X
54
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
47, XXY
55
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
46, XY, del(7q)
56
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
47, XX, +21
57
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
46, XY, t(7;9)(p21.1;q34.1)
58
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
48, XXYY
59
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
Maternal serum markers
60
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
Neutral tube defects (NTD)
61
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
False - higher
62
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
Alpha fetoprotein
63
Testing DNA can detect certain fetal chromosomal abnormalities, like some of the trisomy conditions. True or False
True
64
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
False - somatic cell
65
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
Polyploid
66
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
triploid
67
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
Aneuploid
68
a normal chromosome number; “good set”.
CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers
Euploid
69
cells with one missing chromosome.
CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers
Monosomy
70
a meiotic error that causes aneuploidy.
CHOICES:
Neutral tube defects (NTD), Alpha fetoprotein, Nondisjunction, Monosomy, Euploid, Aneuploid, diploid, triploid, Polyploid, Maternal serum markers
Nondisjunction
71
In monosomy, a chromosome pair does not separate at anaphase of either first or second meiotic division. True or False
False - Nondisjunction
72
Most autosomal aneuploids cease developing long before birth. True or False
True
73
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
Trisomy 21
74
Many people with Down syndrome have physical problems, including heart and kidney defects and hearing and visual loss. True or False
True
75
trisomy 21 is also known as the _______
CHOICES:
Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 18, Trisomy 13, Trisomy 21
Down syndrome
76
trisomy 18 is also known as the _______
CHOICES:
Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 18, Trisomy 13, Trisomy 21
Edwards syndrome
77
trisomy 13 is also known as the _______
CHOICES:
Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 18, Trisomy 13, Trisomy 21
Patau syndrome
78
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
False - trisomy 18 (Edwards syndrome)
79
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
Trisomy 18
80
Most cases of trisomy 18 arise from nondisjunction in meiosis
II of the oocyte. True or False
True
81
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
Trisomy 13
82
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
True
83
Sex chromosome aneuploids are generally associated with much more severe symptoms and characteristics than autosomal aneuploids. True or False
False - lesser severe symptoms
84
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
```
XO syndrome (turner)
85
At birth, a girl with XO syndrome looks normal, except for puffy hands and feet caused by impaired blood flow. True or False
False - impaired lymph flow
86
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
True
87
Symptoms include small stature and menstrual irregularities
```
CHOICES:
XO syndrome (turner), XXYY syndrome, Barr bodies, XXY syndrome, Triplo-X
```
Triplo-X
88
the most common genetic or chromosomal cause of male infertility.
```
CHOICES:
XO syndrome (turner), XXYY syndrome, Barr bodies, XXY syndrome, Triplo-X
```
XXY syndrome
89
Severely affected men of XXY syndrome are sexually underdeveloped, with rudimentary testes and prostate glands and sparse pubic and facial hair. True or False
True
90
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
```
XXYY syndrome
91
A man with XXYY syndrome is fertile. True or False
False - infertile
92
XYY syndrome arises from monosomy in the male, producing a sperm with two Y chromosomes that fertilize a normal oocyte. True or False
False - nondisjunction
93
It represents the X chromosome that is inactive
```
CHOICES:
XO syndrome (turner), XXYY syndrome, Barr bodies, XXY syndrome, Triplo-X
```
Barr bodies
94
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
True
95
used to detect very small CNVs, which are also termed microdeletions and microduplications.
CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)
Comparative genomic hybridization (CGH)
96
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)
Comparative genomic hybridization (CGH)
97
Short arm of chromosome 4, Wolf-Hirschhorn syndrome
CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)
Deletion (Interstitial)
98
Gene encoding peripheral myelin protein 22 on chromosome 17
CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)
Duplication
99
End terminus of the long arm of chromosome 11, Jacobsen syndrome
CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)
Deletion (Terminal)
100
Charcot-Marie-Tooth
CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)
Duplication
101
Short arm of chromosome 5, Cri du chat (cat cry) syndrome
CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)
Deletion (Terminal)
102
Inverted champagne bottle
CHOICES:
Deletion (Interstitial), Deletion (Terminal), Duplication, Comparative genomic hybridization (CGH)
Duplication
103
__________ 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
Translocations
104
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
Robertsonian translocation
105
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
Translocation carrier
106
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
True
107
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
False - Chromosome 21 and 14
108
Robertsonian homozygotes have 47 chromosomes rather than the normal 46. True or False
False - 44 chromosomes
109
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
Reciprocal translocation
110
Reciprocal translocation usually occurs in specific chromosomes that have unstable parts. True or False
True
111
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
Insertional translocation
112
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
True
113
Specific effects of an inverted chromosome may depend upon which genes the flip disrupts. True or False
True
114
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
Pericentric inversion
115
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
Paracentric inversion
116
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
Isochromosome
117
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
Ring chromosomes
118
Isochromosomes are known for chromosomes 12 and 21 and for the long arms of the X and Y. True or False
True
119
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
Uniparental disomy (UPD),
120
The classic example of UPD disrupting imprinting is Prader- Willi syndrome and Angelman syndrome. True or False
True
121
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
Cancer
122
BCR-ABL oncoprotein is a tyronise kinase that excessively stimulates cell division. True or False
True
123
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
Her 2
124
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
Chronic myelogenous leukemia
125
On her 2, Tyronise kinase receptors send too few signals to divide. True or False
False - too many signals
126
Cancer can be caused by loss
Part of the genome
or silencing of a suppressor gene. True or False
True
127
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
Retinoblastoma
128
In sporadic cases of Retinoblastoma, two somatic mutations occur, one on each copy of chromosome 15. True or False
False - chromosome 13
