Chromosome Analysis Flashcards
1
Q
The criteria used for the selection of metaphase spreads suitable for analysis includes all
the following EXCEPT FOR:
A. Presence of an intact cell membrane
B. Chromosome band level (length) C. The quality of G-banding D. The number of overlapped chromosomes
A
A
2
Q
When reviewing a final karyotype a possible overlapped chromosome is suspected. In order to confirm the chromosome number of this cell, all the following information is needed EXCEPT FOR:
A. Patients clinical history
B. Identification number of the patient C. Microscope used to photograph the cell being analyzed D. The coordinates of the metaphase
A
A
3
Q
What is the minimum number of cells that must be counted for in situ amnio analysis?
A. Ten cells from two coverslips B. Ten cells from each of four cultures C. Fifteen cells from one culture D. One cell each from fifteen different colonies from at least two coverslips
A
D
4
Q
Which of the following is TRUE when the banding level of chromosomes is 550-600?
A. There are two dark bands on chromosome 7q. B. There are two dark bands on chromosome 11p. C. There are two dark bands on chromosome 9q. D. The first dark band on chromosome 10q21 is split into two different bands.
A
D
5
Q
When an abnormal cell is detected in an in situ culture all the following should be
considered to rule out pseudomosaicism EXCEPT FOR:
A. Confirm abnormality in other cells in the colony. B. Confirm abnormality in another culture. C. Count 20 colonies from one coverslip. D. Confirm abnormality in other colonies on the same coverslip.
A
C
6
Q
All of the following will result in erroneous chromosome counts EXCEPT:
A. Nomadic intruders B. Overspreading C. Debris D. Undertrypsinization
A
D
7
Q
A Cri-du-chat patient has a chromosome abnormality of
A. t(15;2)(q11;q21) B. t(5;2)(p13;p12) C. t(5;10)(q13;p22) D. r(5)(p15.1q35)
A
D
8
Q
The peripheral blood culture of a patient suspected of having CML is 46,XY. In order to rule out the presence of the t(9;22) the following tissue would be cultured next:
A. Skin B. Bone Marrow C. Another peripheral blood specimen D. Peripheral blood from a family member
A
B
9
Q
What is it called when two different cell lines within an organism seem to come from
different sources?
A. Contamination B. Mosaicism C. Chimerism D. Pseudomosaicism
A
C
10
Q
Which of the following is the correct ISCN nomenclature for a male with fragile X
syndrome?
A. 46,fra(X)(q27.3),Y B. 46,Y,fra(X)(q27.3) C. 46,XY,fra(X)(q27.3) D. 46,X,fra(X)(q27.3)
A
B
11
Q
46,XY,der(9)t(9;10)(q32;q12). Which of the following terms best describes this written karyotype?
A. Balanced B. Unbalanced C. Robertsonian translocation D. Reciprocal
A
B
12
Q
Twenty-nine out of 30 metaphases are normal in the amniotic fluid culture of a pregnant
woman with a history of multiple miscarriages. One cell has a translocation. What does this
signify?
A. leukemia B. cultural artifact C. Robertsonian translocation D. derivative
A
B
13
Q
Deletion (15)(q11 q13) is associated with which of the following?
A. Prader-Willi Syndrome
B. Williams Syndrome C. DiGeorge Syndrome D. Cri-du-Chat Syndrome
A
A
14
Q
The criteria used for the selection of metaphase spreads suitable for analysis includes all
the following EXCEPT FOR:
A. Presence of an intact cell membrane
B. Chromosome band level (length) C. The quality of G-banding D. The number of overlapped chromosomes
A
A
15
Q
When reviewing a final karyotype a possible overlapped chromosome is suspected. In order to confirm the chromosome number of this cell, all the following information is needed EXCEPT FOR:
A. Patients clinical history
B. Identification number of the patient C. Microscope used to photograph the cell being analyzed D. The coordinates of the metaphase
A
A
16
Q
What is the minimum number of cells that must be counted for in situ amnio analysis?
A. Ten cells from two coverslips B. Ten cells from each of four cultures C. Fifteen cells from one culture D. One cell each from fifteen different colonies from at least two coverslips
A
D
17
Q
Which of the following is TRUE when the banding level of chromosomes is 550-600?
A. There are two dark bands on chromosome 7q. B. There are two dark bands on chromosome 11p. C. There are two dark bands on chromosome 9q. D. The first dark band on chromosome 10q21 is split into two different bands.
A
D
18
Q
When an abnormal cell is detected in an in situ culture all the following should be
considered to rule out pseudomosaicism EXCEPT FOR:
A. Confirm abnormality in other cells in the colony. B. Confirm abnormality in another culture. C. Count 20 colonies from one coverslip. D. Confirm abnormality in other colonies on the same coverslip.
A
C
19
Q
All of the following will result in erroneous chromosome counts EXCEPT:
A. Nomadic intruders B. Overspreading C. Debris D. Undertrypsinization
A
D
20
Q
A Cri-du-chat patient has a chromosome abnormality of
A. t(15;2)(q11;q21) B. t(5;2)(p13;p12) C. t(5;10)(q13;p22) D. r(5)(p15.1q35)
A
D
21
Q
The peripheral blood culture of a patient suspected of having CML is 46,XY. In order to rule out the presence of the t(9;22) the following tissue would be cultured next:
A. Skin B. Bone Marrow C. Another peripheral blood specimen D. Peripheral blood from a family member
A
B
22
Q
What is it called when two different cell lines within an organism seem to come from
different sources?
A. Contamination B. Mosaicism C. Chimerism D. Pseudomosaicism
A
C
23
Q
Which of the following is the correct ISCN nomenclature for a male with fragile X
syndrome?
A. 46,fra(X)(q27.3),Y B. 46,Y,fra(X)(q27.3) C. 46,XY,fra(X)(q27.3) D. 46,X,fra(X)(q27.3)
A
B
24
Q
46,XY,der(9)t(9;10)(q32;q12). Which of the following terms best describes this written karyotype?
A. Balanced B. Unbalanced C. Robertsonian translocation D. Reciprocal
A
B
25
Twenty-nine out of 30 metaphases are normal in the amniotic fluid culture of a pregnant
woman with a history of multiple miscarriages. One cell has a translocation. What does this
signify?
A. leukemia
B. cultural artifact
C. Robertsonian translocation
D. derivative
B
26
Deletion (15)(q11 q13) is associated with which of the following?
A. Prader-Willi Syndrome
B. Williams Syndrome
C. DiGeorge Syndrome
D. Cri-du-Chat Syndrome
A
27
What is the first reported consistent chromosome abnormality found in a human cancer?
A. t(8;21)
B. Philadelphia chromosome
C. del(5q)
D. +8
B
28
The technologist was perplexed at whether or not a monosomic cell line in a leukemia case could be called clonal. What condition must the monosomic cell line demonstrate to be considered clonal?
A. the cell must be missing a chromosome 3 or 7
B. two or more cells must have the same monosomy
C. three or more cells must have the same monosomy
D. four or more cells must have the same monosomy
C
29
You have just analyzed 20 metaphases from the bone marrow culture of a 2-year-old child with acute leukemia. You have found a 46,XX,+21 karyotype in all the cells. You know nothing more about the child. What should you do to determine the significance of your findings in the childs bone marrow cells?
A. A skin biopsy should be obtained to rule out tissue culture artifact.
B. Another bone marrow specimen should be obtained to rule out tissue culture artifact.
C. An additional 25 cells should be analyzed to confirm this karyotype.
D. A peripheral blood sample should be obtained to check for constitutional trisomy of 21.
D
30
If you have analyzed 20 cells on a patient with AML and 19 are normal diploids and one has a missing chromosome 13, what is the most likely explanation?
A. The missing chromosome 13 was due to a random loss.
B. An additional 10 cells should be analyzed to rule out this cell as a potential abnormal clone.
C. This cell represents a minor subpopulation of cells with monosomy 13.
D. This finding indicates inherent karyotype instability.
A
31
In an inversion 16, a portion of the chromosome is rotated 180o around the centromere. This is known as what type of inversion?
A. Paracentric
B. Acentric
C. Neocentric
D. Pericentric
D
32
All of the following are Intrachromosomal rearrangements except:
```
A. deletion
B. inversion
C. ring
D. reciprocal translocation
E. isochomosome
```
D
33
Which of the following is not a contiguous gene deletion?
```
A. Miller-Dieker Syndrome
B. DiGeorge Syndrome
C. Prader-Willi Syndrome
D. Aniridia-Wilms Tumor Association
E. Edwards Syndrome
```
E
34
When a structural rearrangement resulting in the loss of one chromosome arm and the duplication of the other occurs, it is called a(n):
```
A. deletion
B. ring
C. reciprocal translocation
D. inversion
E. isochromosome
```
E
35
A fetus with an increased risk for trisomy 18 would have a pattern of serum analytes thats:
A. low AFP, high hCG, high uE3
B. high AFP, low hCG, low uE3
C. low AFP, low hCG, low uE3
D. high AFP, low hCG, high uE3
C
36
Cells with abnormal karyotype, in cases of pseudomosaicism, can arise from all of the following types EXCEPT:
A. fetal tissues
B. amnion membrane
C. extraembryonic cells
D. in vitro culture artifact
A
37
True mosaicism can be diagnosed only when:
A. Two or more abnormal cell lines are found in the same in situ colony.
B. The same abnormal cell line is found in at least two independent culture vessels.
C. Two abnormal cell lines are found in the same culture vessel.
D. When 46,XX and 46,XY cell lines are found in the same culture vessel.
B
38
When there is mosaicism in cultured amniotic fluid cells, the risk for phenotypic abnormality is greatest when it involves
A. Trisomies of chromosomes 8, 9, 13, 18, and 21
B. Trisomies of chromosomes 2, 3, 5, and 6
C. Trisomies of chromosomes 4, 7, 11, and 16
D. Sex chromosome aneuploidy
A
39
(CPM) or Confined placental mosaicism, is defined as:
A. The presence of a 46,XX cell line in the placenta with a 46,XY cell line in the fetus.
B. The presence of mosaicism in the placenta but not in the fetus.
C. The presence of two or more abnormal cell lines within the chorionic villi
D. The presence of two or more cell lines with different chromosome constitutions within the fetus.
B
40
Which of the following associations is false:
A. ANLL-M4EO and inv(16)
B. AML-M2 and t(8;21)
C. APL and t(15;17)
D. AmoL-M5 and del(13q)
D
41
The translocation of (9;22) can be found in which of the following conditions:
A. CML
B. ALL
C. Neither
D. Both
D
42
Which of the following karyotypes exhibits the correct nomenclature:
A. 54,XY,+1,+2,+9,+13,+21,-10,-14, del(7)(q22q36), t(11;22)(q21;q13), +der(22)t(11;22) (q21;q13),+4 mar
B. 54,XY,-10,-14,+1, +2,+9,+13,+21, del(7)(q22q36),der(22)t(11;22)(q21;q13), t(11;22)(q21;q13), +4mar
C. 54,XY,+1,+2, del(7)(q22q36),+9, - 10,t(11;22) (q21;q13),+13, -14,+21,+der(22) t(11;22)(q21;q13), +4 mar
D. 54,XY,del(7)(q22q36),t(11;22)(q21;q13), +der(22)t(11;22) (q21;q13),+1,+2, +9,+13,+21,-10, -14,+4mar54
E. 54,XY,+1,+2,+9,-10,+13,-14,+21, del(7)(q22q36), t(11;22)(q21;q13), +der(22)t(11;22) (q21;q13),+4mar
C
43
Which of the following Karyotype would have the most severe form of mental retardation?
```
A. 45,X
B. 47,XXY
C. 48,XXXY
D. 46,XX
E. 47,XYY
```
C
44
Which of the following would you expect to most likely survive to term?
```
A. Monosomy 14
B. Tetraploidy (92,XXXY)
C. Trisomy 16
D. Trisomy 21
E. Monosomy X(45,X)
```
D
45
Select the correct ISCN:
A. 46,XX,r(9)(p25;q37)
B. 46,XY,del(20)(q21;q23)
C. 46,XX,inv(16)(p14q24)
D. 46,XX,dup(7)(p13;p21)
C
46
Which of the following karyotypes can characterize constitutional mosaicism?
A. 46,XX/45,X
B. 46,XX/45,X,-X
C. 45,X/46,XX
D. 45,X,-X/46,XX
C
47
Which of the following is incorrect?
A. t interchange of chromosome segments
B. del loss of a portion of a chromosome
C. add unknown material present on chromosome
D. ins portion of chromosome rotated 180o
D
48
Inverted duplication is depicted by which of the following karyotypes?
A. 46,XY,dup(4)(q28;q22)
B. 46,XY,dup(4)(q22q28)
C. 46,XY,dup(4)(q22;q28)
D. 46,XY,dup(4)(q28q22)
D
49
During anaphase, when chromatids fail to separate it is called:
A. Anaphase lag
B. Endoreduplication
C. Nondisjunction
D. Aneuploidy
C
50
Ten colonies with a 46,XX karyotype and one colony with a 47,XX,+20 karyotype was observed in an in situ harvest of amniotic fluid culture. This indicates:
A. twins
B. maternal contamination
C. cultural artifact
D. pseudohermaphroditism
C
51
An amniotic fluid culture via in situ harvest results in 10 colonies with a 46,XX karyotype and one colony with a 47,XX,+20 karyotype. This indicates:
```
A. pseudomosaicism
B. mosaicism
C. cultural artifact
D. maternal contamination
E. both a and c
```
E
52
50% of cells from an amniotic flask culture have a 92,XXYY karyotype and 50% have a 46,XY karyotype. This most probably indicates:
A. mosaic fetus
B. pseudomosaicism
C. choriocarcinoma
D. twins
B
53
An elevated MSAFP assay can help identify:
A. neural tube defects
B. trisomies
C. Down syndrome
D. cystic fibrosis
A
54
A cell with three copies of each chromosome is classified as:
A. Mosaic
B. Haploid
C. Trisomic
D. Triploid
D
55
Aniridia and Wilms tumor have been associated with which chromosome?
```
A. 3
B. 5
C. 7
D. 11
E. 15
```
D
56
Which of these statements is incorrect?
A. There are 22 pairs of autosomes
B. Chromosomes are characterized by groups labeled A-H
C. The "X" chromosome belongs to the "C" group
D. the "Y" chromosome belongs to the "G" group
B
57
Which chromosomal abnormality is found in the Prader-Willi syndrome?
A. i(Xq)
B. del(15)(q11q13)
C. del(11)(p13)
D. del(5)(p14p15)
B
58
The most frequent value in a collection of data is statistically known as the:
A. mode
B. median
C. mean
D. standard deviation
A
59
A couple is referred to the physician because the first three pregnancies have ended in spontaneous abortion. Chromosomal analysis reveals that the wife has two cell lines in her blood, one with a missing X chromosome (45,X) and the other normal (46,XX). Her chromosomal constitution can be described as:
```
A. chimeric
B. monoploid
C. trisomic
D. mosaic
E. euploid
```
D
60
The proper cytogenetic notation for a female with Down Syndrome mosaicism is
```
A. 46,XX,+21/46,XY
B. 47,XY,+21
C. 47,XXX/46,XX
D. 47,XX,+21/46,XX
E. 47,XX,+21(46,XX)
```
D
61
Occurs in most cases by the double fertilization of an egg by two sperm:
A. Tetraploidy
B. Euploidy
C. Triploidy
D. Aneuploidy
C
62
What is the term used to describe a cell with only one copy of a particular chromosome?
```
A. Aneuploidy
B. Trisomy
C. Triploidy
D. Monosomy
E. Nondisjunction
```
D
63
What is the term used to describe a chromosome, which is left behind as the spindle separates the chromatids of a chromosome to opposite poles?
A. Anaphase lag
B. Aneuploidy
C. Nondisjunction
D. Euploidy
A
64
Which of the following is used to describe translocations in which various combinations of two D or G group chromosomes are joined by a common centromere? Presence of these translocations can result in functional trisomies.
A. reciprocal
B. unbalanced
C. Robertsonian
D. centromeric fusion
C
65
Which of the following statements is false concerning the four possible gametes formed from a single nondisjunction event occurring during Meiosis I?
A. There are two normal gametes.
B. There are two gametes with monosomy of a particular chromosome.
C. There are two gametes with an extra chromosome.
D. There are no normal gametes formed.
A
66
Which of the following statements is true concerning the four possible gametes formed from a single nondisjunction event occurring during Meiosis II?
A. There is one gamete with an extra chromosome.
B. There is one normal gamete.
C. There are two gametes with monosomy of a particular chromosome.
D. There are two gametes with an extra chromosome.
A
67
This chromosome abnormality results from two breaks occurring in the same arm of a chromosome and a 180o rotation of the broken segment before DNA repair. This results in a change in gene order.
A. Pericentric inversion
B. Paracentric inversion
C. Isochromosome
D. Duplication
B
68
Which of the following persons is or are expected to be phenotypically normal?
A. A female with 45 chromosomes, including a Robertsonian translocation between chromosomes 14 and 21.
B. A male with 46 chromosomes, including a Robertsonian translocation between chromosomes 13 and 21.
C. A female with the karyotype 47,XX,+18
D. both b and c
A
69
A couple is referred to a clinical cytogenetics laboratory due to a prior history of multiple spontaneous abortions. A peripheral blood specimen is obtained for constitutional chromosome analysis, and it is discovered that the male is a carrier of a Robertsonian translocation while the female is chromosomally normal. What is the likelihood
that the next conception will be a miscarriage? Assume that all-viable zygotes even if phenotypically abnormal will come to term.
A. 33%
B. 25%
C. 100%
D. 50%
D
70
An individual with a Robertsonian translocation between chromosomes 13 and 14 seeks genetic counseling. What advice would the genetic counselor give this individual?
A. If they should conceive they should seek prenatal diagnosis for possible Patau Syndrome fetuses.
B. Should not worry about conceiving abnormal children.
C. Only normal gametes or lethal gametes will be formed.
D. If they should conceive, they should seek prenatal diagnosis for possible Edward syndrome children.
E. The genetic counselor should inform this individual that it is very likely that they will be sterile (no normal
gametes will be formed).
A
71
This intrachromosomal abnormality results from two breaks occurring on either side of a chromosomes centromere. Two acentric fragments are left over after the rearrangement takes place.
A. dicentric
B. pericentric
C. ring
D. duplication
C
72
Which of the following are reasons why cytogeneticists would study an individuals constitutional karyotype?
A. To check for balanced translocations when there is a history of spontaneous miscarriages.
B. To determine whether a chromosomal abnormality is constitutional or acquired in cancer patients.
C. To study chromosome damage due to environmental exposure to chemicals, drugs, radiation etc.
D. all of the above
D
73
Which karyotype correctly describes a direct duplication?
A. 46,XY,dup(1)(q22;q28)
B. 46,XYdup(1)(q28;q22)
C. 46,XY,dup(1)(q22q28)
D. 46,XY,dup(1)(q28q22)
C
74
The karyotype of an individual with a pericentric inversion of chromosome number 9 would be designated by which of the following?
A. 47,XY,inv(9)(p13;q11)
B. 47,XY,inv(9)(q11p13)
C. 46,XY,inv(9)(p13q11)
D. 46,XY,inv(9)(q11p13)
C
75
The ISCN short form karyotype for a female patient with 46 chromosomes and a translocation between chromosome 1 and 7 at breakpoints p31 and q21 respectively would be written as:
A. 46;XX;(7,1)(p31,q21)
B. 46,XX,(1;7)(p31;q21)
C. 46,XX,t(1;7)(p31;q21)
D. 46,XX,t(1;7)(q21;p31)
C
76
A karyotype written as 45,X,-X,del(11)(p13) implies which of the following?
A. A Turner syndrome patient with deletion of the short arm of 11 involving band p13.
B. A female patient with 45 chromosomes, minus one X chromosome and a deletion in the short arm of
chromosome 11 involving band p13
C. both a and b
D. none of the above
B
77
Which karyotype correctly describes a balanced translocation?
A. 46,XY,t(2;14) (p14q23)
B. 45,XY,t(2;14) (p14;q23)
C. 47,XY,+(2;14) (p14;q23)
D. 46,XY,t(2;14) (p14;q23)
D
78
Which karyotype correctly describes a terminal deletion?
A. 46,XY,dup(1)(q22;q28)
B. 46,XY,del(1)(q28;q22)
C. 46,XY,del(1)(q22q28)
D. 46,XY,del(1)(q28)
B
79
The children with this chromosomal syndrome have a distinctive cry that sounds like a cat. Dysmorphic features include a moon-shaped face with slanted eyes. What is the chromosomal abnormality observed in this syndrome?
A. del(4)(p16)
B. del(5)(p15)
C. del(17)(p11)
D. +18
B
80
This is one of the few syndromes with a tetrasomy of a chromosome region. Children affected with this syndrome have an extra isochromosome i(22)(pter-q11), and have coloboma of the iris. This syndrome is called:
A. Cri du Chat Syndrome
B. Alagille Syndrome
C. Beckwith-Wiedeman Syndrome
D. Cats Eye Syndrome
D
81
Parental chromosome studies should be recommended for which of the following karyotypic abnormalities?
A. 46,XX,der(14;21)(q10;q10),+21
B. del(13q)
C. dup(11q)
D. all of the above
D
