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Module 1 > Mock NCA > Flashcards

Mock NCA Flashcards

1
Q

The anticoagulant of choice for collecting peripheral blood for chromosome studies is:

	 A.   ACD	
	 B.   Lithium heparin	
	 C.   EDTA	
 	 D.   sodium heparin	
	 E.   sodium citrate
A

D

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2
Q

Most specimens can be transported without loss of viability at the following temperatures EXCEPT:

 A.  37oC	
 B.  Box with commercial ice pack	
 C.  Box with commercial dry ice	
 	 D.  Ambient temperature
A

C

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3
Q

The mitogen PHA-m stimulates which cell type?

 A. Leukocytes	
 B. B-lymphocytes	
 C. Erythrocytes	
 	 D. T-lymphocytes
A

D

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4
Q

Upon receipt in the laboratory the following items must be evaluated and documented:

 A. presence of blood clots; date and time of collection; type of collection tube	
 B.  hemolysis; obvious contamination; adverse transport or storage conditions	
 C.  presence of preservative; an adequate volume or specimen size	
 	 D. a, b and c	
 E.  b and c
A

D

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5
Q

A typical specmen referred for diagnosis of CML would likely appear as:

A. Bloody, non-clotted 5 -10 ml fluid in sodium heparin tube 

 B.   5-25 mg solid tissue 	
 C.  1-2 g solid tissue	
 D.  Bloody, non-clotted 0.5-2.0 ml fluid in sodium heparin tube
A

D

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6
Q

The first 2-3 ml of amniotic fluid aspirated from the amniotic sac are discarded to:

 A.  reduce the amount of blood in the specimen	
 	 B.   guard against maternal cell contamination	
 C.   rinse and remove residue from collection tubes	
 D.   test for presence of maternal urine
A

B

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7
Q

A mitogen used to study disorders of the B-cell lineage is

	 A.   PHA	
 	 B.   TPA	
	 C.   Concanavalin A	
	 D.   EBV	
	 E.   a and c	
	 F.   b and d
A

F

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8
Q

A broad spectrum antibiotic that has an inhibitory effect on mycoplasma is:

 A.   Gentamicin	
 B.   Kanamycin	
 	 C.   Mycostatin	
 D.   Penicillin
A

A

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9
Q

To optimize consistency of results and for efficiency, PHA-m is added to the culture:

 A.   Within 4-6 hours of incubation	
 B.   within 24 hours of incubation	
 	 C.   only immediately before incubation	
 D.   media when it is prepared
A

D

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10
Q

Colcemid continues to act until the step in the harvest.

A. Fixative solution addition 

 B.   Hypotonic addition	
 C.   First spin to remove culture media from the cells	 D.   Slidemaking
A

A

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11
Q

The response of white blood cells to PHA is

 	 A.   time dependent	
	 B.   initiated when the culture reaches 37oC	
	 C.   an immunogenic response	
	 D.   b and c	
	 E.   a, b and c
A

E

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12
Q

Harvesting lymphocyte cultures for chromosome analysis includes:

 A.   inoculating 1-2 x106 cells into 10ml media	
 B.   adding 300 ul PHA	
 C.   fixing cells in a swollen state with methanol: acetic acid	
 D.   incubating at 37oC for 48-72 hours	
 	 E.   all of above steps
A

C

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13
Q

Indications of culture contamination include:

	 A.  decrease in the pH of the media	
	 B.   cloudy media	
	 C.   poor growth without apparent reason	
	 D.   b and c	
 	 E.   a, b and c
A

E

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14
Q

To remove cells from adherence to solid support surfaces,

 A.   EDTA is needed to add more ions to culture media	
 B.   Collagenase is needed to digest proteins	
 C.   Trypsin is needed to digest elastin	
 	 D.   Trypsin is needed to digest proteins
A

D

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15
Q

The two variable of greatest consequence during slidemaking are:

	 A.   humidity and air pressure	
	 B.   cell concentration and dropping height	
	 C.   temperature and dropping height	
	 D.   glass slide quality and humidity	
 	 E.   humidity and temperature
A

E

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16
Q

Mitotic cells can NOT routinely be collected from blood cultures at ___ hours after incubation

A. 24 

 B.   48	
 C.   72	
 D.   96
A

A

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17
Q

The quality of unstained slides NOT evaluated under the phase microscope is:

	 A.   mitotic index	
	 B.   chromosome counts	
 	 C.   visible cytoplasm and color of chromosomes	
	 D.   cell concentration 	
	 E.   cell refractivity
A

B

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18
Q

Altering the fixative solution ration from 3:1 to 2:1 will:

 A.   speed up slide drying time	
 	 B.   slow down slide drying time	
 C.   have no effect on slide drying time	
 D.   produce only clumped cells
A

B

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19
Q

Permanently stuck together clumps of cells often observed on the prepared slide are the result of:

 A.   Inadequate dropping height when slidemaking	
 B.   inadequate hypotonic concentration or duration	 C.   inadequate mixing during the initial addition of fixative solution	
 D.   inadequate number of fixative steps
A

C

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20
Q

Basal media may contain all the following EXCEPT:

 A.   salts	
 B.   vitamins	
 C.   amino acids	
 	 D.   fetal bovine serum
A

D

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21
Q

If the mitotic inhibitor is not added at the beginning of harvest, what might one expect to observe on the prepared slide after harvest in complete?

 A.   no metaphases	
 B.   clumped metaphases	
 	 C.   a greatly increased mitotic index	
 D.   a greatly reduced mitotic index
A

D

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22
Q

Cells that grow in a monolayer:

 A.   are contact inhibited	
 B.   may be enzymatically or mechanically removed from the surface	
 C.   are typical for all normal human derived solid tissues	
 	 D.   a and b	
 E.   a, b and c
A

E

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23
Q

For routine blood culture, cytogenetic technologist use:

 A.   an open system	
 B.   a closed system	
 	 C.   a flask system	
 D.   the in situ method
A

B

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24
Q

The purpose of the water tray in the bottom of the CO2 incubator is to:

 A.   prohibit microbial contamination in the incubator air	
 B.   reduce the surface tension of the media	
 	 C.   saturate the air with moisture to prevent media evaporation	
 D.   provide an alternative growth area for microbes
A

C

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25
Q

Cell synchronization methods depend on:

 A.   rapid growth of cells in culture	
 B.   DNA intercalating agents	
 C.   Hypotonic treatment and fixation	
 	 D.   Specific chemical blocking and releasing of dividing cells
A

D

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26
Q

Elongated chromosome methods do not include the use of:

A. excess colcemid 

 B.   excess thymidine	
 C.   ethidium bromide	
 D.   methotrexate
A

A

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27
Q

A good banding pattern will be expected when you observe chromosomes before banding under the phase scope with the following appearance:

 A.   pale	
 	 B.   dark	
 C.   shiny	
 D.   separated chromatids
A

B

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28
Q

Special culture conditions or medium are NOT required to demonstrate which of the following

 A.   fragile X	
 	 B.   inactive X	
 C.   sister chromatid exchange	
 D.   C bands
A

D

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29
Q

The pattern of serum in a patient at increased risk for a fetus with trisomy 18 would be:

 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
A

C

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30
Q

The optimal gestational age range (based on last menstrul period) for performing CVS is

 A.   4 to 6 weeks	
 	 B.   10 to 13 weeks	
 C.   14 to 16 weeks	
 D.   16 to 18 weeks
A

B

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31
Q

Optimal media pH for cell culture is:

 A.   6.8-7.0 	
 B.   7.0-7.2 	
 	 C.   7.2-7.4	
 D.   7.4-7.6
A

C

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32
Q

Bone marrow cultures should usually be:

A. unstimulated 

 B.   stimulated with T-cell mitogens	
 C.   stimulated with B-cell mitogens	
 D.   stimulated with both T-cell mitogens and B-cell mitogens
A

A

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33
Q

Trypsin becomes inactive at a pH of ___.

A. 6.6 

 B.   7.2	
 C.  7.8	
 D.  8.0
A

A

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34
Q

Some commonly used brands of mounting media are Gurr’s neutral mounting medium, Harleco Coverbond, Permount, and Eukitt. The important factors to keep in mind when selectinga mounting medium are:

	 A.  refractive index	
	 B.  viscosity	
	 C.  reactivity with stain	
	 D.  a and c	
 	 E.  all of the above
A

D

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35
Q

The best method to G-band slides on the same day of slide dropping is:

A. Incubate the slides in 90 degree C for 1-3 hours. 

 B.  Incubate the slides in 60 degree C for 1-3 hours.	
 C.  treat the slides with 15% hydrogen peroxide for 2-7 minutes	
 D.  a and c	
 E.  all of the above
A

D

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36
Q

pH 6.6 of trypsin solution could result in:

 A.  sharp bands	
 B.  ghost-like chromosome bands	
 	 C.  indistinct chromosome bands	
 D.  shinny chromosomes
A

C

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37
Q

After G-banding your slide, you found the chromosomes on the slides were ghost-like with very few visible bands. You should:

 A.  increase trypsin time	
 B.  increase Giemsa staining time	
 	 C.  decrease trypsin time	
 D.  decrease Giemsa staining time
A

C

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38
Q

After G-banding your slide, you found the chromosomes on the slides were uniformly stained dark with very few visible bands. You should:

A. increase trypsin time 

 B.  increase Giemsa staining time	
 C.  decrease trypsin time	
 D.  decrease Giemsa staining time
A

A

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39
Q

Cytogenetic laboratories need to store slides as required by regulation. According to CAP checklist, permanently stained slides, such as G-banded slides, should be kept for at least ______years.

 A.   one	
 	 B.  two	
 C.  three	
 D.  four
A

C

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40
Q

Which of the following techniques can be used to detect interphase cytogenetic rearrangements?

 A.  SKY	
 B.  G-banding	
 	 C.  FISH	
 D.  Sister chromomatid exchange
A

C

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41
Q

Your whole batch of 10 samples FISH experiment turned out to have no visible signal. Which of the following could be the most likely cause?

 A.  Slides were dropped and frozen in -20 degree C freezer a month ago.	
 	 B.  Slides were not aged with 2XSSC in 37 degree C water bath for 30 minutes.	
 C.  Temperture of the denature solution was 65 degree C.	
 D.  Temperture of incubator for hybridization was 38 degree C.
A

C

42
Q

Which of the following is the correct termperature for FISH hybridization?

 A.  17 degree C	
 B.  27 degree C	
 	 C.  37 degree C	
 D.  47 degree C
A

C

43
Q

There are significant amount of non-specific background observed after a FISH experiment. Which of the following is less likely?

 A.  coverslip was not sealed completely before hybridization.	
 B.  post-wash temperature was too high.	
 	 C.  salt concentration of your post-wash solution was too high.	
 D.  NP-40 concentration of your post-wash solution was too low.
A

B

44
Q

In order to increase post-wash stringency, you could

 A.  decrease the temperature of post-wash solution.
 	 B.  increase the salt concentration of post-wash solution.	
 C.  decrease the NP-40 concentation of post-wash solution.	
 D.  increase the duration of post-wash
A

D

45
Q

Which of the following could be used and FISH counterstain?

A. DAPI 

 B.  PI	
 C.  a and b	
 D.  none of the above
A

C

46
Q

Which of the following is NOT a step for Kohler illumination?

A. Center and focus the light bulb. 

 B.   Focus on the specimen with a low-power objective.	
 C.   Open the field diaphragm to maximum.	
 D.   Set the aperture stop.
A

C

47
Q

Close the aperture stop of the condenser all the way could:

 A.   maximize illumination	
 B.  maximize resolution	
 	 C.  maximizie contrast	
 D.  even the distribution of light.
A

C

48
Q

The immersion oil used for fluorescent microscopy work is usually with

 A.   lower viscosity.	
 B.   higher viscosity.	
 C.   polychlorinated biphenyls.	
 	 D.   antifade solution.
A

B

49
Q

The total magnification when using 10x occular piece and 100x oil objective is:

 A.  100	
 	 B.  1000	
 C.  10000	
 D.  500
A

B

50
Q

The coverglass plus mounting medium should be:

 A.   0.017 mm thick.	
 	 B.  0.17 mm thick.	
 C.  1.7 mm thick.	
 D.  17 mm thick.
A

B

51
Q

One can adjust the brightness of a microscope by:

 A.  close the field stop diaphram	
 B.  open the field stop diaphram	
 	 C.  adding filters or adjust the regulating transformer	
 D.  open the iris
A

C

52
Q

When cleaning microscope objectives:

A. it is best to start from the lowest objective and work your way up 

 B.  it is best to start witht the highest objective and work your way down.	
 C.  you can start with the objective in front of you and work clockwise	
 D.  you can start with the objective in front of you and work counterclockwise.
A

A

53
Q

If a clear image only could be seen with the 10X objective but not the 100X objective, you might suspect that:

 A.  Too much oil is on the slide	
 B.  The light source is not centered	
 C.  The lens is in the locked position.	
 	 D.  Two coverslips are on the slide.
A

D

54
Q

The process converting the analog image to a digital image is called:

 A.  Segmentation	
 	 B.  Digitization	
 C.  Thresholding	
 D.  Pixelation
A

B

55
Q

During the image enhancing process, what is a good indicator for avoiding over-enhaning through sharpening and contrasting?

 A.   There is maximum contrast between dark and light bands.	
 B.  Satellites and telomeres are visible.	
 	 C.  4pter becomes invisible.	
 D.  The whole image looks hazy.
A

B

56
Q

Which of the following needs barrier protective equipment?

A. DAPI 

 B.  Culture media	
 C.  KCL	
 D.  Sodium citrate
A

A

57
Q

These are good practice in terms of chemical safety EXCEPT:

 A.  Date all chemicals upon arrival.	
 B.  Store large bottles of corrosives on a low shelf or in specially designeated cabinets.	
 C.   Store highly toxic chemicals in specially designated areas with restricted access.	
 	 D.  Store corrosives on a different shelf of a flammable cabinet.
A

D

58
Q

The device used weekly to measure CO2 level of incubator is:

 A.  Hybrite.	
 B.  Hanabi.	
 C.  Tecan.	
 	 D.  Fyrite.
A

D

59
Q

Biological safety cabinets should be wipe clean with _______ after each use an at the end of the day.

A. 10% bleach. 

 B.  100% ethanol.	
 C.  70% ethanol.	
 D.   100% bleach.
A

C

60
Q

All cultures from a batch of setup have failed to grow. The possible reason is:

 A.   patient condition.	
 	 B.  incubator failure.	
 C.  improper collection.	
 D.  inadequate amount of specimen.
A

B

61
Q

Laboratories should achieve a success rate of at least _____ for prenatal diagnosis specimens.

A. 90% over a 3-month period. 

 B.  90% over a 6-month period.	
 C.  95% over a 3-month period.	
 D.  95% over a 3-month period.
A

C

62
Q

What would you do if a friend ask you for the results of a cytogenetic analysis performed in your lab?

 A.  Check the result and tell her.	
 B.   Check the result and tell her. Remind her do not let other people know.	
 	 C.  Refuse her request.	
 D.  Report this to your director and ask your director to handle this.
A

C

63
Q

These deficiencies occur in areas essential in the management of a laboratory and must be corrected before accreditation can be granted. These deficiencies may have a serious effect on the quality of patient care or may affect the health and safety of hospital or laboratory personnel.

 A.  Phase 0 deficiencies.	
 B.  Phase I deficiencies.	
 	 C.  Phase II deficiencies.	
 D.  Phase III deficiencies.
A

C

64
Q

Cytogenetic laboratories are inspected on-site by CAP every two years. This is a joint inspection with the American College of Medical Genetics. Prior to this inspection the laboratory must perform the following self-inspection EXCEPT:

 A.  Maintain QC records such as equipment maintenance logbook.	
 B.  Complete the Laboratory General Checklist as well as the Cytogenetics Checklist.	
 C.  Review and update all procedures in the procedural manual.	
 	 D.  Make sure 90% of specimens are completed within 21 calendar days.
A

D

65
Q

Quality indicators are those factors, which can indicate a decrease in the overall quality of laboratory testing. Which of the following is NOT a typical quality indicator in cytogenetic laboratories?

 A.  Band level.	
 B.  Turnaround time.	
 C.  Abnormality detection rate.	
 	 D.  Number of specimen received.
A

D

66
Q

During a CAP inspection, a lab received a phase II deficiency for “Physical Facilities”. Which of the following is NOT a relevant aspect for deficiency?

 A.  Laboratory safety signs and posts.	
 	 B. Proficiency testing.	
 C.  Fire alarm and extinguisher.	
 D.  Laboratory space.
A

B

67
Q

Your laboratory success rates and turnaround times have been declining over recent months in both your prenatal and hematological malignancy sections. What might be the cause for this?

 A.  Specimen quality variation.	
 	 B.   Reagents or laboratory equipment failure.	
 C.  Specimen collection variation.	
 D.  New employee in the laboratory.
A

B

68
Q

Which of the these translocations is not commonly recurrent in acute myeloid leukemia (AML)?

 A.  t(15;17)(q22;q12-21)	
 	 B.  t(12;21)(p12-13;q22)	
 C.  t(8;21)(q22;q22)	
 D.  t(16;16)(p13;q22)
A

B

69
Q

Sister chromatid exchange

 A.  Is only seen in Fanconi anemia patients	
 B.  Occurs only during first meiotic prophase	
 C.  Can be demonstrated with whole chromosome paints	
 	 D.  Is greatly increased in Bloom syndrome patients
A

D

70
Q

t(11;14)(q13;q32) is most commonly seen in

 A.  Acute myeloid leukemia (AML)	
 B.   Myeloproliferative syndromes (MPS)	
 	 C.  Mantle cell lymphoma	
 D.  Myelodysplastic syndrome (MDS)
A

C

71
Q

Two out of 28 cells examined showed a 45,X karyotype during a routine constitutional chromosome analysis in a 40 year old woman referred for recurrent miscarriage. The most likely explanation is:

A. this result is real and needs to be reported as mosaic Turner syndrome 

 B.  this result is real and is associated with the patient's presentation	
 C.  this is due to the addition of excess colcemid	
 D.  this is due to cultural artifact	
 E.  this is due to maternal age related X chromosome loss and is unrelated to the patient's presentation.
A

D

72
Q

The pseudoautosomal region is:

 A.  the heterochromatic regions on chromosomes 1, 9, 16 and the Y chromosome	
 B.  found on the distal short arm of the acrocentric chromosomes	
 	 C.  the pairing region found on the telomeric ends of the X and Y chromosomes	
 D.  involves the SRY gene on the Y chromosome
A

C

73
Q

Level III mosaicism is defined as the following

 A.  Two or more cells with the same abnormality in a dispersed culture from a single flask	
 B.  Two or more cells with the same abnormality in an in situ culture from a single flask	
 C.  Two or more cells with the same abnormality from two independent colonies in the same culture	
 	 D.  Two or more cells with the same abnormality observed in each of two or more independent cultures.	
 E.  a single abnormal cell observed in a dispersed culture
A

D

74
Q

Which of the following is most strongly associated with advanced maternal age?

A. Trisomy 13 

 B.  New single gene mutations	
 C.  XYY syndrome	
 D.  Microdeletion syndromes
A

A

75
Q

Which of the following represents a balanced chromosomal rearrangement

 A.  a ring chromosome	
 	 B.  a chromosome with an inversion	
 C.  an isochromosome	
 D.  a chromosome with a deletion
A

B

76
Q

One would expect that routine cytogenetic analysis using standard G banding at normal levels of resolution could detect most cases of:

A. Cri du Chat syndrome 

 B.  Prader-Willi syndrome	
 C.  Angelman syndrome	
 D.  Miller Deiker syndrome
A

A

77
Q

A person with two or more different cell lines originating from a single zygote is called a:

 A.  syndrome	
 B.  chimera	
 	 C.  mosaic	
 D.  heterozygote
A

B

78
Q

Turner syndrome occurs in humans whose cells are missing either the X or Y chromosome. All of the following are TRUE statements EXCEPT

A. Barr bodies form in the nuclei of Turner syndrome individuals. 

 B.  The zygote has 45 chromosomes	
 C.   A Turner syndrome zygote results when a sperm missing a Y chromosome fertilizes a normal egg.	
 D.  A Turner syndrome zygote results when a sperm missing a Y chromosome fertilizes a normal egg.
A

A

79
Q

A phenotypically normal woman with a 45,XX,der(14;21)(q10;q10) karyotype has a karyotypically normal husband. Among their live born offspring, which of the following is LEAST likely?

 A.  46,XX	
 	 B.  46,XY,+14,der(14;21)(q10;q10)mat	
 C.  46,XY,der(14;21)(q10;q10)mat,+21	
 D.  45,XX,der(14;21)(q10;q10)mat
A

B

80
Q

A chromosomal analysis is obtained on a young woman with mild signs of Turner syndrome and reveals a 45,X/46,XX karyotype. Nondisjunction is most likely to have occurred in:

 	 A.  maternal meiosis I	
	 B.  maternal meiosis II	
	 C.  paternal meiosis I	
	 D.  paternal meiosis II	
	 E.  mitosis after fertilization
A

E

81
Q

In females with X/autosome translocations:

 A.  The abnormal X is preferentially inactivated in carriers of balanced translocations.	
 	 B.  The normal X is preferentially inactivated in carriers of balanced translocations.	
 C.   The normal X is preferentially inactivated when there is one normal X chromosome and one structurally abnormal X chromosome.	
 D.   X inactivation does not occur at all regardless of balanced or unbalanced state
A

B

82
Q

Which karyotype would be MOST frequently seen in liveborn infants (as opposed to spontaneous abortions)?

 A.   47,XX,+3	
 B.   69,XXX	
 	 C.  47,XX,+21	
 D.  46,YY
A

C

83
Q

All of the following karyotypes are found in spontaneous abortuses. Which of the following is least likely to be found in a live-born infant?

 A.  46,XY	
 B.  45,X	
 C.  47,XX,+21	
 	 D.  47,XX,+16
A

D

84
Q

All of the following are indications to refer a prenatal patient for genetic counseling EXCEPT:

 A.  Advanced maternal age	
 B.   Either parent is a carrier of a balanced translocation	
 C.   Family history of cystic fibrosis	
 	 D.  History of one prior pregnancy ending in miscarriage
A

D

85
Q

Which of the following is the most likely explanation for the occurrence of the following individual?

A. Nondisjunction in meiosis I of the father 

 B.  Nondisjunction in meiosis II of the father	
 C.  Nondisjunction in meiosis I of the mother	
 D.  Nondisjunction in meiosis II of the mother
A

B

86
Q

After 5 years of trying to have a child and a recent spontaneous abortion, a couple presents for primary infertility counseling. Currently, the husband is 30 years old and his wife is 28 years old. During the interview, the husband reveals that his mother also had several spontaneous abortions, and gave birth to a child with Trisomy 21 when she was 25 years old. Which of the following tests is lkely to establish the cause of their infertility?

 A.  Hormonal levels in the wife	
 B.  Semen analyis	
 	 C.  Karyotype for the husband	
 D.   Karyotype for the wife
A

C

87
Q

A 15-year-old boy is evaluated by a clinican for failure to develop normal male secondary sexual characteristics. Physical examination reveals small testes, a small penis and gynecomastia. The boy has had some difficulties in school, and the parents say that he was evaluated by a school psychologist and scored an IQ of 90 on the Wechsler Intelligence Scale for Children. This patient’s condition is most likely to be due to which of the following?

A. Nondisjunction of a sex chromosome 

 B.  Deletion	
 C.  Nondisjunction of an autosome	
 D.  Reciprocal translocation
A

A

88
Q

A couple presents to you for genetic counseling. The husband has a child suffering from Angelman syndrome from his first marriage. They would like to have children and want to know the probability that one of their children will inherit this disorder. Which of the following statements would be the best answer to give them?

A. Angelman syndrome is usally caused by a spontaneous deletion on the maternally-derived chromosome 15, so their risk of having a child with Angelman syndrome is very small. 

 B.  Angelman syndrome is usually caused by a spontancous deletion on the paternally-derived chromosome 15.  However, the recurrence rate is very small.	
 C.  Angelman syndrome is caused by the expansinoof a CGG repeat on a maternally-derived X chromosomem in the zygote that turns off the transcription of an essential gene.	
 D.  Angelman syndrome is a rare X-linked recessive trait, so the probability that their child would inherit the condition is extremely small.
A

A

89
Q

An 18 month old child presents for evaluation. He exhibits growth retardation, mental retardation as well as distinctive facial features. His mother is age 24-years-old and his father is 26-years-old. Karyotypes of both parents and the child are done, and the abnormal results are shown above. The event which led to the child’s anormal karyotype was:

 A.  adjacent I segregation	
 B.  adjacent II segregation	
 C.  alternate segregation	
 	 D.  a single recombination event within a pericentric inversion
A

D

90
Q

A 32 year-old male was referred to a specialty clniic because of a 2 year history of male infertility. Karyotyping of peripheral blood lymphocytes showed 46 chromosomes with XX constitution in all cells examined. Which of the following is the cause of a phenotypic normal male with a 46,XX karyotype?

A. Deletion of the XIST gene 

 B.   Deletion of the SRY region	
 C.  Nondisjunction during meiosis I in the male	
 D.  An illegitimate crossover event
A

D

91
Q

Karyotype analysis is performed on a nine year old boy with mild mental retardation. Other than the mild mental retardation, the patient has a normal physical exam. Which of the following karyotypes is LEAST likely to be detected upon chromosome analysis of this patient?

A. 45,X 

 B.  46,XY	
 C.  47,XYY	
 D.  47,XXY
A

A

92
Q

A five year old girl is found to have mild mental retardation, short stature, and a structural defect of the left kidney. Which of the following categories of disease is LEAST likely?

 A.  Single gene disorder	
 B.  Chromosomal disorder	
 C.  Polygenic disorder	
 	 D.  All of the above are possiblities, and should be considered in the diagnosis of this patient.
A

D

93
Q

The BEST first step in determining the category of disease for the patient described in question 92 would be:

 A.  Obtaining a comprehensive family history	
 	 B.  Karyotype analysis	
 C.  Studies to determine renal (kidney) function	
 D.  MRI of the head
A

A

94
Q

Which of the following pregnant women is at the MOST risk of delivering a child with Down syndrome?

 A.  A 23 year old mother of a previous child with Trisomy 21	
 	 B.  A 23 year old woman who is a carrier for a 21;21 Robertsonian translocation	
 C.  A 42 year old mother of two normal children	
 D.  A 23 year old woman who is a carrier for a 14;21 Robertsonian translocation
A

B

95
Q

A 47,XXX karyotype has all the following causes EXCEPT:

 A.  Can be caused by nondisjunction during meiosis I in the spermatocyte	
 B.  Can be caused by nondisjunctino during meiosis II in the spermatocyte	
 	 C.  Can be caused by nondisjunction during meiosis I in the oocyte	
 D.  Can be caused by nondisjunction during meiosis II in the oocyte
A

A

96
Q

Mosaicism (germline or somatic) is LEAST likely to be found in which of the following?

 A.  A normal female	
 B.  A male child with trisomy 18, who survives to age 10 years.	
 C.  A Turner syndrome patient	
 	 D.  A male with cystic fibrosis
A

D

97
Q

A boy is born with multiple congenital anomalies. Karyotype analysis is performed on the child and found to be abnormal. Which of the following results would lead you to perform karyotype analysis on the parents?

 A.  47,XY,+21	
 B.  45,XXY	
 C.  46,XX	
 	 D.  46,XX,der(14;21)(q10;q10),+21
A

D

98
Q

You send a blood sample from a dysmorphic infant to the cytogenetics laboratory for karyotype analysis. The laboratory report states that the child’s karyotype is 46,XY,del (4)(p16). Should you request that the laboratory perform karyotype analysis on the parents? If yes why, and if no, why not?

 A.  No, because this karyotype is a normal variant and karyotyping the parents will give you little useful additional information.	
 B.  No, because this karyotype is abnormal, and you require no additional information to make the diagnosis.	
 C.  Yes, because this karyotype may be a normal variant, and determining if one of the parents has the same karyotype will allow you to determine whether it is a normal variant or not.	
 	 D.  Yes, because this karyotype is abnormal, and karyotyping the parents will allow you to determine whether the abnormality arose de novo (is the result of a new mutation).
A

D

99
Q

A patient’s first pregnancy has resulted ina spontaneous abortion and she is concerned about it’s implications and causes. Which of these short histories would be most consistent with the patient haveing a balanced chromosomal translocation?

 A.  My first cousin on my father's side has a son who is mentally retarded and two daughters who have normal IQ's.	
 	 B.  My mother had five miscarriages and my sister just had a baby with multiple congenital malformations.	
 C.  My mother lost a child when it was less than a year old and my father's sister also lost a son when he was an infant.	
 D.  My cousins on my mother's side all have elevatied cholesterol levels and one of the even died of a heart attack at age 33.
A

B

100
Q

An individual has an insertion of material from the maternal homolog of chromosome 10 into the paternal homolog of chromosome 10. Regarding this person’s offspring, which statement is CORRECT?

 A.  half will have a normal karyotype, and half will have a chromosome 10 deletion	
 B.  half will have a normal karyotype and half will have a chromosome 10 duplication	
 	 C.  half will have a chromosome 10 duplication and half will have a chromosome 10 deletion	
 D.  all will have both a chromosome 10 duplication and a chromosome 10 deletion
A

C

Module 1 (8 decks)

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