Cytogenetics Quizzes: Master Chromosome Structure and Abnormalities

Question 1

Which of the following is NOT a standard chromosome banding technique?

Accepted Answer

FISH

Answer

G-banding

Answer

R-banding

Answer

C-banding

Question 2

The typical karyotype of a human female is:

Accepted Answer

46, XX

Answer

44, X, Y

Answer

46, XY

Answer

45, X

Question 3

Down syndrome is caused by which chromosomal abnormality?

Accepted Answer

Trisomy 21

Answer

Translocation 14/21

Answer

Deletion 5p

Answer

Inversion 9

Question 4

The banding pattern on chromosomes is created through a technique called:

Accepted Answer

C-banding

Answer

Karyotyping

Answer

Cytogenetics

Answer

FISH

Question 5

Balanced translocations are characterized by:

Accepted Answer

No loss or gain of genetic material

Answer

Presence of extra copies of chromosomes

Answer

Deletions of specific chromosome regions

Answer

Inversions of chromosomes

Question 6

Which technique is used to detect specific DNA sequences on chromosomes?

Accepted Answer

Southern blotting

Answer

Western blotting

Answer

Northern blotting

Answer

PCR

Question 7

Which of the following is NOT a clinical application of cytogenetics?

Accepted Answer

Drug development

Answer

Prenatal diagnosis

Answer

Cancer diagnosis

Answer

Gene mapping

Question 8

The term 'karyotype' refers to:

Accepted Answer

The complete set of chromosomes in a cell

Answer

The banding pattern of chromosomes

Answer

The number of chromosomes in a cell

Answer

The shape of chromosomes

Question 9

Aging is associated with which of the following chromosomal changes?

Accepted Answer

Telomere shortening

Answer

Increased chromosome breaks

Answer

Gain of extra chromosomes

Answer

Loss of specific chromosome regions

Question 10

Which of the following is NOT a common type of structural chromosomal abnormality?

Accepted Answer

Hypoploidy

Answer

Translocation

Answer

Inversion

Answer

Deletion

Question 11

Which banding technique utilizes trypsin digestion to produce G-bands?

Accepted Answer

G-banding

Answer

R-banding

Answer

Q-banding

Answer

C-banding

Question 12

The primary function of the centromere is to facilitate:

Accepted Answer

Chromatid separation during mitosis and meiosis

Answer

Gene expression regulation

Answer

Chromosome structure and stability

Answer

DNA replication initiation

Question 13

Karyotyping involves:

Accepted Answer

Arranging and staining chromosomes for microscopic analysis

Answer

Sequencing DNA to identify mutations

Answer

Amplifying DNA to detect copy number variations

Answer

Measuring chromosome length and width

Question 14

C-banding is a chromosome banding technique commonly used to identify:

Accepted Answer

Heterochromatic regions

Answer

G-bands

Answer

R-bands

Answer

Q-bands

Question 15

Aneuploidy refers to:

Accepted Answer

An abnormal chromosome number

Answer

A normal chromosome number

Answer

A structural chromosome abnormality

Answer

A change in the DNA sequence

Question 16

Which of the following is a type of chromosomal deletion involving the loss of genetic material from the ends of a chromosome?

Accepted Answer

Terminal deletion

Answer

Interstitial deletion

Answer

Ring chromosome

Answer

Inversion

Question 17

Cytogenetic analysis is a technique used to diagnose:

Accepted Answer

Chromosomal abnormalities

Answer

Single-gene disorders

Answer

Metabolic disorders

Answer

Infectious diseases

Question 18

Which molecular techniques are used to detect submicroscopic deletions or duplications in a specific chromosomal region?

Accepted Answer

Fluorescence in situ hybridization (FISH)

Accepted Answer

Comparative genomic hybridization (CGH)

Answer

Karyotyping

Answer

Polymerase chain reaction (PCR)

Question 19

Which chromosomal abnormality arises from the exchange of genetic material between non-homologous chromosomes?

Accepted Answer

Translocation

Answer

Inversion

Answer

Deletion

Answer

Duplication

Question 20

A patient with a 46,XX,del(5)(q13) karyotype is most likely to exhibit features of which clinical condition?

Accepted Answer

Cri du chat syndrome

Answer

Down syndrome

Answer

Turner syndrome

Answer

Klinefelter syndrome

Question 21

Which of the following is a characteristic property of heterochromatin?

Accepted Answer

Lightly condensed and gene-poor

Answer

Highly condensed and gene-rich

Answer

Contains nucleolus organizer regions

Answer

Stains lightly with Giemsa

Question 22

What is the process by which homologous chromosomes align and pair up during meiosis?

Accepted Answer

Synapsis

Answer

Crossing over

Answer

Independent assortment

Answer

Segregation

Question 23

Which of the following cytogenetic techniques is commonly used to detect chromosomal translocations?

Accepted Answer

FISH

Answer

Karyotyping

Answer

CGH

Answer

SNP array

Question 24

What is the primary function of centromeres in chromosome biology?

Accepted Answer

Sites of spindle fiber attachment

Answer

Regions of active gene transcription

Answer

Locations of telomere sequences

Answer

Boundaries between euchromatin and heterochromatin

Question 25

Which condition is caused by the presence of an extra copy of chromosome 21?

Accepted Answer

Down syndrome

Answer

Turner syndrome

Answer

Klinefelter syndrome

Answer

Cri du chat syndrome

Question 26

What is a key role of telomeres in maintaining chromosome stability?

Accepted Answer

Preventing chromosome fusions

Answer

Facilitating DNA replication

Answer

Regulating gene expression

Answer

Maintaining chromosome structure

Question 27

What is the distinction between a karyotype and an ideogram in cytogenetic analysis?

Accepted Answer

A karyotype represents the actual chromosomes, while an ideogram is a schematic representation.

Answer

An ideogram represents the actual chromosomes, while a karyotype is a schematic representation.

Answer

Both a karyotype and an ideogram represent the actual chromosomes.

Answer

Both a karyotype and an ideogram are schematic representations.

Question 28

Which of the following is an example of a chromosomal abnormality involving a change in chromosome number?

Accepted Answer

Trisomy

Answer

Translocation

Answer

Inversion

Answer

Deletion

Question 29

What is the clinical significance of the Philadelphia chromosome?

Accepted Answer

It is associated with chronic myeloid leukemia

Answer

It results in Down syndrome

Answer

It is a normal variant found in some individuals

Answer

It is a marker for sickle cell anemia

Question 30

What is the difference between heterochromatin and euchromatin?

Accepted Answer

Heterochromatin is densely packed and transcriptionally inactive, while euchromatin is loosely packed and transcriptionally active

Answer

Euchromatin is densely packed and transcriptionally inactive, while heterochromatin is loosely packed and transcriptionally active

Answer

Heterochromatin is found near the centromere, while euchromatin is found near the telomeres

Answer

Euchromatin is found near the centromere, while heterochromatin is found near the telomeres

Question 31

What are the ethical and legal considerations associated with cytogenetic testing?

Accepted Answer

It raises issues related to informed consent, privacy, and genetic discrimination

Answer

It is not subject to any ethical or legal considerations

Answer

It only has implications for the individual being tested

Answer

It is exclusively used for research purposes

Question 32

What is the most common chromosomal abnormality in humans?

Accepted Answer

Down syndrome (Trisomy 21)

Answer

Klinefelter syndrome (XXY)

Answer

Turner syndrome (X)

Answer

Trisomy 18 (Edwards syndrome)

Question 33

Which of the following is a potential clinical consequence of a chromosomal deletion?

Accepted Answer

Loss of function

Answer

Gain of function

Answer

Duplication

Answer

Translocation

Question 34

Which of the following is a characteristic of a balanced translocation?

Accepted Answer

No loss or gain of genetic material

Answer

Presence of extra chromosomal material

Answer

Altered gene expression

Answer

Increased risk of offspring with chromosomal abnormalities

Question 35

Which of the following is a type of chromosomal aberration that involves the gain of an extra chromosome?

Accepted Answer

Trisomy

Answer

Monosomy

Answer

Deletion

Answer

Inversion

Question 36

A patient with a balanced translocation involving chromosomes 13 and 14 is most likely to be a:

Accepted Answer

Carrier with no phenotypic effects

Answer

Individual with Down syndrome

Answer

Individual with Patau syndrome

Answer

Individual with Cri du chat syndrome

Question 37

Which of the following is a characteristic feature of trisomy 18?

Accepted Answer

Severe mental retardation, microcephaly, rocker-bottom feet

Answer

Short stature, microcephaly, simian crease

Answer

Tall stature, macrocephaly, epicanthal folds

Question 38

What is the primary function of the centromere in chromosome segregation?

Accepted Answer

Attachment site for spindle fibers during cell division

Answer

Storage of essential genes for cell survival

Answer

Determination of the sex of the individual

Question 39

What is the term for a chromosome that has gained a segment?

Accepted Answer

Duplication

Answer

Deletion

Answer

Inversion

Answer

Translocation

Question 40

Which of the following is the most frequent type of chromosomal rearrangement in humans?

Accepted Answer

Translocation

Answer

Inversion

Answer

Duplication

Answer

Deletion

Question 41

What is the name of the technique used to prepare and stain chromosomes for microscopic examination?

Accepted Answer

Karyotyping

Answer

FISH

Answer

Southern blotting

Answer

PCR

Question 42

Which of the following is a characteristic of a balanced translocation?

Accepted Answer

Retention of the normal amount of genetic material

Answer

Deletion of a chromosomal segment

Answer

Inversion of a chromosomal segment

Answer

Duplication of a chromosomal segment

Question 43

A karyotype reveals a 46,XY,t(5;14)(q31;q13) abnormality. Which of the following syndromes is NOT associated with this translocation?

Accepted Answer

Down syndrome

Answer

Cri du chat syndrome

Answer

Prader-Willi syndrome

Answer

Angelman syndrome

Question 44

Which of the following techniques is primarily used to identify fragile sites on chromosomes?

Accepted Answer

Folate-deficient medium

Answer

Spectral karyotyping

Answer

Chromosome banding

Answer

Fluorescence in situ hybridization (FISH)

Question 45

Fluorescence in situ hybridization (FISH) is a cytogenetic technique primarily used for:

Accepted Answer

Detecting specific DNA sequences on chromosomes

Answer

Measuring chromosome length

Answer

Analyzing gene expression

Answer

Identifying chromosomal rearrangements

Question 46

Which of the following is a potential ethical concern associated with cytogenetic testing?

Accepted Answer

Disclosure of genetic information to third parties without consent

Answer

High cost of testing

Answer

Inaccurate results

Answer

Limited availability of testing

Question 47

Which cytogenetic technique is commonly employed to visualize distinctive chromosome banding patterns?

Accepted Answer

G-banding

Answer

FISH (Fluorescence In Situ Hybridization)

Answer

PCR (Polymerase Chain Reaction)

Answer

Karyotyping (Traditional chromosome analysis without banding)

Question 48

What is the chromosomal abnormality characterized by an additional copy of a specific chromosome?

Accepted Answer

Trisomy

Answer

Deletion (Loss of a chromosome segment)

Answer

Inversion (Reversal of chromosome segment orientation)

Answer

Monosomy (Absence of one copy of a chromosome)

Question 49

What is the significance of centromere position in classifying chromosomes?

Accepted Answer

It determines chromosome morphology and characteristic banding patterns.

Answer

It ensures chromosome stability.

Answer

It influences gene expression levels.

Question 50

Which type of chromosomal rearrangement involves the exchange of genetic material between non-homologous chromosomes?

Accepted Answer

Translocation

Answer

Duplication (Gain of a chromosome segment)

Answer

Inversion (Reversal of chromosome segment orientation)

Answer

Deletion (Loss of a chromosome segment)

Question 51

What is the approximate resolution limit of conventional cytogenetic banding techniques?

Accepted Answer

5-10 Megabases (Mb)

Answer

1-2 Kilobases (Kb)

Answer

50-100 Megabases (Mb)

Question 52

Which molecular cytogenetic technique enables the detection of chromosomal abnormalities below the resolution limit of conventional banding techniques?

Accepted Answer

Fluorescence In Situ Hybridization (FISH)

Answer

PCR (Polymerase Chain Reaction)

Answer

G-banding

Answer

Karyotyping

Question 53

What is the primary purpose of performing chromosomal microarray analysis (CMA)?

Accepted Answer

To detect copy number variations and other genomic imbalances.

Answer

To identify specific gene mutations.

Answer

To determine chromosome banding patterns.

Question 54

Which of the following is a potential application of cytogenetics in prenatal diagnosis?

Accepted Answer

Identification of fetal chromosomal abnormalities.

Answer

Gene therapy

Answer

Pharmacogenomics

Answer

Treatment of genetic disorders

Question 55

What is the term used to describe the process of examining and analyzing the karyotype of a particular cell or organism?

Accepted Answer

Karyotyping

Answer

Molecular cytogenetics

Answer

Cytogenetics

Answer

Genomics