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Diagnostic Cytogenetics Flashcards

1
Q

These are the importance of cytogenetic analysis.

A

Prenatal diagnosis, detection of carrier status, and treatment for malignancies and hematologic disorders.

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2
Q

This cytogenetic analysis technique allows visualization of chromosomes under a microscope.

A

Karyotyping

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3
Q

True or False: Cells being karyotyped is best arrested in their anaphase state.

A

False, they are best arrested during metaphase.

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4
Q

This is the graphical representation of a karyotype.

A

Karyogram

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5
Q

These are the types of samples used in karyotyping.

A
  1. Peripheral Blood Smear
  2. Bone Marrow Fluid
  3. Amniotic Fluid
  4. Chorionic Villus
  5. Fibroblasts
  6. Epithelial Cell via Buccal Smear
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6
Q

These are the reagents used for karyotyping.

A
  1. Phytohemagglutinin (PHA)
  2. Colcemid/Colchicin
  3. Potassium Chloride Solution
  4. Methylalcohol and Acetic Acid
  5. Giemsa Stain Solution
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7
Q

True or False: Mitosis treated with colchicine produces more spindle fibers, faster chromosome movement, and two daughter cells are made.

A

False, treating with colchicine would produce no spindle fibers, no chromosome movement, and one daughter cell.

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8
Q

This is a sampling procedure involving amniotic fluid to determine genetic abnormality.

A

Amniocentesis

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9
Q

True or False: Amniocentesis is postnatal diagnostic test procedure.

A

False, it is a prenatal diagnostic test.

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10
Q

True or False: In amniocentesis, a large amount of amniotic fluid is removed during 10 to 15th week of pregnancy.

A

False, only a small amount of fluid is removed during 15 to 20th week of pregnancy.

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11
Q

This is a prenatal genetic sampling procedure used in order to confirm or rule out abnormalities.

A

Chorionic Villus Sampling

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12
Q

True or False: Chorionic villus sampling is done via transcervical or transabdominal procedure.

A

True

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13
Q

This is the needed number of weeks pregnant in order to perform chorionic villus sampling.

A

10 to 13th weeks pregnant

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14
Q

This is a staining technique for the chromosomes.

A

Chromosomal Banding

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15
Q

True or False: Chromosomal banding is comprised of alternating red and blue stripes and appear along its width after being stained.

A

False, it is comprised of light and dark stripes and appears on its length after being stained.

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16
Q

This molecule is a lightly packed chromatin and enriched in genes.

A

Euchromatin

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17
Q

True or False: Euchromatins is involved in passive transportation.

A

False, they are involved in active transportation.

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18
Q

This molecule is tightly packed chromatin with low gene density.

A

Heterchromatin

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19
Q

This type of heterochromatin is poorly expressed and is located in the centromeres and telomeres for repetitive sequences and transposable elements.

A

Constitutive Heterochromatin

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20
Q

This type of heterochromatin is compact and silent, flexible and reversible, and expressed n certain cell stages.

A

Facultative Heterochromatin

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21
Q

This banding technique involved the Giemsa stain.

A

G-Banding

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22
Q

True or False: G-Banding’s dark bands are in the G-C and light bands on the A-T.

A

False, the dark bands on the A-T and light bands on the G-C.

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22
Q

True or False: In G-Banding, dark bands are heterochromatic and light bands are euchromatic.

A

True

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23
Q

This banding technique uses the Giemsa stain with reverse patterns.

A

R-Banding

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24
Q

True or False: R - Banding’s dark bands are G-C and light bands are A-T.

A

True

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25
Q

These are the chromatins found in R-Banding’s light and dark bands.

A

Dark bands possess rich euchromatins and light bands have rich heterochromatins.

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26
Q

This banding technique has a fluorescent pattern and is called the quinacrine stain.

A

Q - Banding

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27
Q

True or False: In Q-Banding, dark bands are A-T and light bands are G-C.

A

True

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28
Q

This banding technique only stains dark bands and is centromeric.

29
Q

These are the type of chromatin found the dark bands of C-Banding.

A

Constitutive Heterochromatin

30
Q

This banding technique is used to visualize the telomeric regions of chromosomes.

31
Q

These are the two stains used in T-Banding.

A

Giemsa or Acridine Orange

32
Q

This staining technique is used to identify genes for ribosomal RNA that were active in a previous cell cycle.

A

NOR-Staining

33
Q

This is the meaning of NOR.

A

Nucleolar Organizing Region

34
Q

True or False: NOR-Staining is also called the Gold Staining method.

A

False, it is also called the Silver Staining method.

35
Q

These are the locations of NORs in a chromosome.

A

In the short arms of acrocentric chromosome 13, 14, 15, 21, and 22.

36
Q

This diagnostic method is done through the localization and detection of nucleotide sequences in preserved tissue or cell preparation.

A

In Situ Hybridization (ISH)

37
Q

True or False: ISH hybridizes the two incompatible strands of nucleotide probes and forces a sequence of interest.

A

False, ISH hybridizes complementary strands.

38
Q

This is the etymology of ISH.

A

In Situ means “in place” and Hybridization is the “binding of complementary sequences.”

39
Q

This molecular technique is commonly used in cytogenetic laboratories and in the detection and localization of specific DNA sequences on chromosomes.

A

Fluorescent In Situ Hybridization

40
Q

These are the probes in FISH that hybridize to the selected DNA or RNA sequences.

A

Fluorescence-labeled Nucleic Acid

41
Q

These are the three (3) required components for FISH.

A

Sample, Probes, and Fluorescent Microscope

42
Q

These are the four (4) protocol outlines for FISH.

A

Preparation, Denaturation, Hybridization, and Detection/Visualization.

43
Q

These are the three (3) example specimens used for FISH.

A
  1. Bone Marrow Aspirate
  2. Peripheral Blood Smear
  3. Fixed and Sectioned Tissue
44
Q

These are the kinds of probes used in FISH.

A
  1. Whole Chromosome Painting Probe
  2. Centromeric Probe
  3. Telomeric Probe
  4. Locus/Gene-Specific Probe
45
Q

True or False: Locus and telomeric probes are examples of repetitive-sequence probes.

A

False, repetitive sequence probes are centromeric and telomeric.

46
Q

This is a prerequisite process for hybridization of probes and target.

A

Denaturation

47
Q

True or False: Denaturation before hybridization can be achieved by way of heat or acidic methods.

A

False, either by heat or alkaline method.

48
Q

This process is the formation of duplex between two complementary nucleotide sequences.

A

Hybridization

49
Q

These are the three (3) possible hybridizations between nucleic acids.

A
  1. DNA to DNA
  2. DNA to RNA
  3. RNA to RNA
50
Q

This type of detection is a label bound to the probe.

A

Direct Labeling

51
Q

This type of detection requires an additional step and results in signal amplification.

A

Indirect Labeling

52
Q

This protocol is when fluorescent probes attach to a target sequence during hybridization and is seen through a fluorescent microscope.

A

Visualization

53
Q

True or False: Solid tumors are caused by the amplification of the HTERT gene on the 18th chromosome and is associated with a passive form of breast cancer.

A

False, it is the amplification of the HER2 gene on the 17th chromosome and it is an aggressive form of breast cancer.

54
Q

These are the three (3) advantages of FISH.

A
  1. Detection of small genetic changes
  2. Data can be obtained from non-dividing or terminating cells
  3. Highly sensitive and specific.
55
Q

These are the four (4) limitations of FISH.

A
  1. Limitedly available probes.
  2. Sensitive for trisomy and less for deletion.
  3. Not good at heterogenous diseases.
  4. Requires fluorescent microscope and image analysis system.
56
Q

This is a cytogenetic analysis test that is used for the detection of a whole genome sequence via chip containing probes.

A

Chromosomal Microarray Analysis (CMA)

57
Q

This karyotyping technique uses multi-fluorochrome FISH and all chromosomes are simultaneously visualized in a single hybridization.

A

Special Karyotyping (SKY)

58
Q

This is the year and the inventor of the chromosomal microarray analysis test.

A

Stephen Fodor in 1991

59
Q

These are the two main types of CMA.

A

Comparative Genome Hybridization (aCGH) and SNP Array (aSNP).

60
Q

These are the two types of comparative genome hybridization (aCGH).

A

BAC Array and Oligoarray

61
Q

This is the meaning of BAC in BAC array.

A

Bacterial Artificial Chromosome

62
Q

True or False: BAC processes at 100kb genomic intervals and Oligoarray at 1MB.

A

False, BAC is at 1MB and Oligoarray is at 100KB.

63
Q

This is a feature of the aCGH that enables it to play a role in shaping wide ranges of phenotypes, detect gain or loss of DNA segments, and copy number changes.

A

Copy Number Variation

64
Q

True or False: Copy number variation is able to detect 100KB or larger DNA segments.

A

False, it is able to detect 1KB or larger DNA segments.

65
Q

This type of microarray analysis uses DNA sequence variations and can only affect single nucleotide bases.

A

Single Nucleotide Polymorphism (SNP) Array

66
Q

These are the 3 limitations of microarray analysis tests.

A
  1. Cannot detect balanced rearrangements.
  2. Can miss aneuploidies.
  3. Can miss gains depending on FNA size and composition.
  4. Difficult access to array interpretation.
67
Q

This is test is a powerful platform that has enables the sequencing of thousands to millions of DNA simultaneously.

A

Next Generation Sequencing

68
Q

True or False: NGS makes use of polymerase chain reaction process.

69
Q

These are the three (3) protocols in NGS.

A
  1. Denaturation
  2. Annealing
  3. Extension
70
Q

These are the three (3) NGS approaches.

A
  1. Whole-genome Sequencing
  2. Transcriptome Sequencing
  3. Whole-exome Sequencing

Cytogenetics (15 decks)

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