Clinical Cytogenetics Principles

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Questions and Answers

What is the term for a cell with an abnormal number of chromosomes?

  • Haploid
  • Aneuploid (correct)
  • Polyploid
  • Diploid

What is the term for a cell with three complete sets of chromosomes?

  • Aneuploid
  • Tetraploid
  • Triploid (correct)
  • Diploid

What is the general term for an organism with more than two complete sets of chromosomes?

  • Aneuploid
  • Polyploid (correct)
  • Diploid
  • Haploid

Cri-du-chat syndrome is caused by a partial deletion of which chromosome?

<p>Chromosome 5 (A)</p> Signup and view all the answers

What is the process called when a segment of one chromosome is transferred to another chromosome?

<p>Translocation (D)</p> Signup and view all the answers

What is the name of a translocation between two acrocentric chromosomes?

<p>Robertsonian Translocation (D)</p> Signup and view all the answers

Which term describes an individual with an extra copy of chromosome 21?

<p>Trisomy 21 (D)</p> Signup and view all the answers

Which of the following is NOT a type of chromosomal structure abnormality mentioned in the text?

<p>Diploidy (C)</p> Signup and view all the answers

What is the term for an organism with three sets of chromosomes?

<p>Triploid (B)</p> Signup and view all the answers

Which of the following is a characteristic of an acrocentric chromosome?

<p>Centromere located near one end (C)</p> Signup and view all the answers

Which of the following is NOT a type of polyploidy?

<p>Monosomy (B)</p> Signup and view all the answers

Which of the following is a possible consequence of non-disjunction?

<p>Both A and B (C)</p> Signup and view all the answers

A cell with 92 chromosomes is considered to be:

<p>Tetraploid (A)</p> Signup and view all the answers

What is the ploidy level of a normal human cell?

<p>Diploid (D)</p> Signup and view all the answers

A cell with 69 chromosomes would be classified as:

<p>Triploid (A)</p> Signup and view all the answers

Which condition describes a change in the number of chromosomes, but not a complete set?

<p>Aneuploidy (C)</p> Signup and view all the answers

A person with an extra chromosome 18 has what condition?

<p>Trisomy 18 (D)</p> Signup and view all the answers

What is the term for an organism with one extra chromosome?

<p>Trisomic (C)</p> Signup and view all the answers

Which of the following describes the ploidy level of a gamete?

<p>Haploid (A)</p> Signup and view all the answers

Which of the following best describes the difference between trisomy and triploidy?

<p>Trisomy involves an extra copy of a single chromosome, while triploidy involves an extra set of chromosomes. (A)</p> Signup and view all the answers

Which of the following scenarios is an example of tetraploidy?

<p>A cell possessing four sets of chromosomes. (A)</p> Signup and view all the answers

Which of the following statements accurately describes polyploidy?

<p>Polyploidy specifically refers to conditions where more than two sets of chromosomes are present. (D)</p> Signup and view all the answers

A condition characterized by two extra copies of a single chromosome is referred to as:

<p>Tetrasomy (C)</p> Signup and view all the answers

Which of the following conditions involves an extra copy of a single chromosome?

<p>Trisomy (D)</p> Signup and view all the answers

Which of the following statements is TRUE regarding aneuploidy?

<p>Aneuploidy is characterized by a change in the number of chromosomes. (C)</p> Signup and view all the answers

Which of the following is NOT a common clinical indication for a chromosomal disorder?

<p>History of influenza infection (C)</p> Signup and view all the answers

Which of the following conditions is NOT a result of aneuploidy?

<p>Tetraploidy (D)</p> Signup and view all the answers

What is the ploidy of a cell with three sets of chromosomes?

<p>Triploid (A)</p> Signup and view all the answers

What is the ploidy of a normal human cell?

<p>Diploid (A)</p> Signup and view all the answers

Which of the following is a condition where an individual has an extra copy of a chromosome?

<p>Aneuploidy (B)</p> Signup and view all the answers

Which of the following terms describes a condition where an organism has more than two sets of chromosomes?

<p>Polyploidy (C)</p> Signup and view all the answers

Which of the following is NOT a characteristic of aneuploidy?

<p>Presence of an extra set of chromosomes (C)</p> Signup and view all the answers

What is the ploidy of a cell with 69 chromosomes?

<p>Triploid (C)</p> Signup and view all the answers

Which of the following is an example of aneuploidy?

<p>All of the above (D)</p> Signup and view all the answers

What is the ploidy of a cell that has 92 chromosomes?

<p>Tetraploid (B)</p> Signup and view all the answers

What is the ploidy of a cell that has three sets of chromosomes?

<p>Triploid (A)</p> Signup and view all the answers

A cell with four sets of chromosomes is called a(n):

<p>Tetraploid (D)</p> Signup and view all the answers

What is the difference between aneuploidy and polyploidy?

<p>Aneuploidy involves a change in the number of chromosome sets, while polyploidy involves a change in the number of individual chromosomes. (A)</p> Signup and view all the answers

What type of cytogenetic staining technique would be most suitable for detecting subtle structural abnormalities in chromosomes?

<p>Prometaphase banding (D)</p> Signup and view all the answers

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Which of the following statements accurately describes the principle behind Fluorescent In Situ Hybridization (FISH)?

<p>FISH uses fluorescent probes to detect specific DNA sequences within a chromosome, revealing abnormalities such as deletions, duplications, or translocations. (C)</p> Signup and view all the answers

In the context of chromosomal disorders, what makes FISH a valuable tool compared to traditional karyotyping?

<p>FISH can detect smaller chromosomal rearrangements that may be missed by karyotyping, offering a more precise diagnosis. (C)</p> Signup and view all the answers

Which of the following chromosomal abnormalities could be efficiently detected using FISH, but might be missed by standard karyotyping?

<p>A small deletion in chromosome 7, associated with Williams syndrome (B)</p> Signup and view all the answers

How does FISH differ from traditional karyotyping in terms of the information it provides regarding chromosomal abnormalities?

<p>FISH provides a more detailed and specific analysis of chromosomal structure, identifying subtle variations not detectable by karyotyping. (A)</p> Signup and view all the answers

In a clinical setting, what specific advantage does FISH offer when investigating a patient with suspected subtelomeric deletions?

<p>FISH can directly visualize specific subtelomeric regions, allowing for the detection of deletions that may go unnoticed by karyotyping. (D)</p> Signup and view all the answers

Which of the following is NOT a characteristic of Fluorescence In Situ Hybridization (FISH)?

<p>FISH is a highly sensitive technique that can detect only large-scale chromosomal changes, not small-scale variations. (A)</p> Signup and view all the answers

Which of the following statements is TRUE regarding the use of FISH in prenatal diagnosis?

<p>FISH is sometimes used in prenatal diagnosis to detect specific chromosomal abnormalities, such as trisomy 21. (A)</p> Signup and view all the answers

What is the primary advantage of using FISH over traditional karyotyping?

<p>FISH is a highly sensitive technique that can detect smaller structural abnormalities that may not Be visible with karyotyping. (D)</p> Signup and view all the answers

What is the role of fluorescent probes in FISH?

<p>Fluorescent probes bind to specific DNA sequences and emit light when excited with a laser. (C)</p> Signup and view all the answers

Which of the following applications of FISH is NOT commonly used in clinical settings?

<p>Gene expression analysis (C)</p> Signup and view all the answers

How does FISH differ from traditional karyotyping?

<p>All of the above. (D)</p> Signup and view all the answers

Which of the following is a limitation of FISH?

<p>FISH requires specialized equipment and expertise. (D)</p> Signup and view all the answers

Which of the following is a major application of FISH in cancer diagnosis?

<p>All of the above. (D)</p> Signup and view all the answers

How does FISH contribute to understanding the evolutionary history of a species?

<p>FISH can be used to compare the genomes of different species and identify regions of similarity or difference. (B)</p> Signup and view all the answers

In which of the following cases would FISH be most useful compared to traditional karyotyping?

<p>Identification of a specific gene on a chromosome (B)</p> Signup and view all the answers

Which of these is NOT a key advantage of FISH (Fluorescent In Situ Hybridization) over traditional banding techniques like G-banding?

<p>FISH offers higher resolution, allowing for the detection of smaller chromosomal abnormalities that may be missed by G-banding (D)</p> Signup and view all the answers

What is a significant limitation of FISH that distinguishes it from G-banding?

<p>FISH is only applicable for identifying specific genes or chromosomal regions of interest, limiting its utility for comprehensive chromosomal analysis. (C)</p> Signup and view all the answers

Which of the following scenarios would FISH be the most suitable technique?

<p>Investigating the presence or absence of a specific gene implicated in a genetic disease. (D)</p> Signup and view all the answers

A researcher is studying the expression of a specific gene in different cell types. Which technique would be most appropriate for visualizing the gene's location and expression levels?

<p>FISH (B)</p> Signup and view all the answers

A patient presents with a suspected microdeletion syndrome. What is the most suitable cytogenetic method for confirming the diagnosis?

<p>FISH using probes specifically targeting the suspected microdeletion region (C)</p> Signup and view all the answers

In the context of prenatal diagnosis, how does FISH differ significantly from traditional karyotyping?

<p>FISH offers faster turnaround time, allowing for earlier detection of fetal abnormalities. (A)</p> Signup and view all the answers

A researcher is studying the evolution of a specific chromosome in different species. Which technique would be most valuable in comparing the arrangement of genes across these species?

<p>FISH using probes specific to different genes (A)</p> Signup and view all the answers

A patient presents with a suspected genetic disorder associated with a specific gene. What is the most appropriate technique to confirm if the gene is present and intact?

<p>FISH using probes specific to the suspected gene (C)</p> Signup and view all the answers

Which of the following statements is TRUE regarding Giemsa banding?

<p>Giemsa banding is the most commonly used method for cytogenetic analysis. (A)</p> Signup and view all the answers

Considering the requirements for routine cytogenetic analysis, which type of cell is most suitable?

<p>White blood cells, due to their ability to grow in culture. (B)</p> Signup and view all the answers

Which of the following techniques uses fluorescently labeled probes to identify specific DNA sequences on chromosomes?

<p>FISH (D)</p> Signup and view all the answers

Which of the following scenarios is an example of a Robertsonian translocation?

<p>Two acrocentric chromosomes fuse at the centromere, resulting in a single chromosome. (A)</p> Signup and view all the answers

Which of the following statements accurately describes the application of FISH in diagnosing chromosomal disorders?

<p>FISH is used to detect specific DNA sequences on chromosomes, allowing for the identification of both numerical and structural chromosomal abnormalities. (D)</p> Signup and view all the answers

Which of the following statements is TRUE regarding the use of colcemid in cytogenetic analysis?

<p>Colcemid is used to arrest cells in mitosis. (A)</p> Signup and view all the answers

Which of the following best describes the purpose of using a hypotonic solution in cytogenetic analysis?

<p>To increase the size of the chromosomes to make them easier to visualize. (D)</p> Signup and view all the answers

What is the primary function of an ideogram in karyotyping?

<p>To create a stylized representation of a chromosome, emphasizing the location of the centromere. (B)</p> Signup and view all the answers

Which of the following statements accurately describes the role of FISH in clinical cytogenetics?

<p>FISH is a technique used to identify specific DNA sequences on chromosomes, enabling the detection of subtle abnormalities or deletions that might be missed by traditional karyotyping. (D)</p> Signup and view all the answers

How does FISH differ from traditional karyotyping in terms of the type of chromosomal abnormalities it can detect?

<p>FISH is more sensitive than karyotyping for detecting subtle abnormalities, including small deletions or duplications, which might be missed by karyotyping. (C)</p> Signup and view all the answers

Which of the following is NOT a primary application of FISH in clinical cytogenetics?

<p>Determining the function of specific genes in the development of diseases. (A)</p> Signup and view all the answers

Which of the following best describes the principle behind FISH?

<p>FISH involves hybridizing fluorescently labeled probes to complementary DNA sequences on chromosomes, leading to a visible signal. (D)</p> Signup and view all the answers

In FISH analysis, what is the specific component that binds to the target DNA sequence on the chromosome?

<p>Oligonucleotide probes. (A)</p> Signup and view all the answers

Which of the following scenarios would be MOST suitable for using FISH as a diagnostic tool?

<p>Detecting a translocation involving chromosomes 9 and 22 in a patient suspected of having chronic myelogenous leukemia. (A)</p> Signup and view all the answers

Which of the following is a significant advantage of FISH over traditional karyotyping?

<p>FISH is a more rapid and less labor-intensive technique. (A)</p> Signup and view all the answers

Which of the following scenarios would be MOST suitable for using FISH?

<p>Identifying a small deletion associated with DiGeorge syndrome. (C)</p> Signup and view all the answers

Flashcards

Chromosomal Abnormalities

Changes in chromosome number and structure causing defects.

Karyotyping

A laboratory technique to analyze chromosome number and structure.

G Banding

A common cytogenetic method using Giemsa stain to identify chromosomes.

Prometaphase Banding

A higher resolution banding method used for detecting chromosomal abnormalities.

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Different Banding Methods

Techniques like G, Q, R, and C banding used for chromosomal analysis.

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Polyploidy

Possessing more than two complete sets of chromosomes.

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Trisomy

A condition with an extra copy of one chromosome.

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Triploidy

A condition with an extra set of chromosomes (three sets).

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Tetrasomy

A condition with two extra copies of the same chromosome.

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Tetraploidy

A condition with two extra sets of chromosomes (four sets).

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Advanced Maternal Age

Increased risk of chromosome abnormalities in pregnancies over 35 years.

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Clinical Cytogenetics

The branch of medical genetics that studies chromosome structure and number to identify abnormalities.

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Aneuploidy

A condition of having an abnormal number of chromosomes, such as monosomy or trisomy.

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Monosomy

A type of aneuploidy where one chromosome is missing from a pair.

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Ploidy

The number of sets of chromosomes in a cell; diploid (2N) for humans is standard.

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Karyotype

The number and appearance of chromosomes in the cell nuclei, often represented in a banded format.

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FISH

Fluorescence In Situ Hybridization, a molecular cytogenetic technique used to identify and locate specific DNA sequences on chromosomes.

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CGH

Comparative Genomic Hybridization, a technique to analyze copy number variations in the genome.

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Structural Rearrangement

Changes in the structure of chromosomes, such as deletions, duplications, inversions, and translocations.

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Non-disjunction

Failure of chromosomes to separate properly during cell division, leading to abnormal chromosome numbers.

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Chromosomal Aberration

Any change in the normal structure or number of chromosomes that can affect genetic function.

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InDel

Insertion or deletion of nucleotides in the DNA sequence which can affect gene function.

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Cri du chat syndrome

A genetic disorder caused by a partial deletion of the short arm of the 5th chromosome, resulting in developmental issues.

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Translocation

The transfer of a chromosome segment from one chromosome to another, potentially leading to genetic disorders.

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Robertsonian Translocation

A type of translocation involving two acrocentric chromosomes fused together, often with loss of the short arms.

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Acrocentric Chromosomes

Chromosomes with the centromere located near one end, creating a long arm and a very short arm.

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Chromosomal Segregation

The process during cell division where chromosomes are distributed to daughter cells.

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Autosomal Deletions

Loss of a segment of a chromosome that is not a sex chromosome, affecting overall health.

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Giemsa banding

A staining technique for identifying light and dark bands on chromosomes.

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Metacentric chromosomes

Chromosomes with centromeres located in the middle, resulting in equal arms.

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Submetacentric chromosomes

Chromosomes with off-center centromeres, causing unequal arm lengths.

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Venipuncture

A procedure to obtain white blood cells by puncturing a vein.

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Colcemid

A drug used to arrest cells in metaphase during cytogenetic analysis.

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Hypotonic solution

A solution that causes cells to swell, aiding in chromosome visualization.

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Chromosome spread

Arrangement of chromosomes for analysis by spreading them on a slide.

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Centromere

The point on a chromosome where sister chromatids are joined.

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Abnormality Detection

Clinical cytogenetics studies chromosome number and structure to identify disorders.

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Karyotyping Methods

Techniques like G, Q, R, and C banding used for chromosomal analysis.

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Structural Rearrangement Examples

Changes such as InDel and translocations can cause chromosomal defects.

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Trisomy vs Triploidy

Trisomy has an extra copy of one chromosome; Triploidy has an extra set of chromosomes.

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Tetrasomy vs Tetraploidy

Tetrasomy has two extra copies of the same chromosome; Tetraploidy has two extra sets of chromosomes.

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Chromosomal Disorders

Conditions caused by abnormal chromosome numbers or structures, leading to various health issues.

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Incidence of Chromosomal Abnormalities

Chromosomal abnormalities are a leading cause of pregnancy loss and major syndromes.

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Cytogenetics

The study of the structure and properties of chromosomes.

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Karyotyping Techniques

Methods like Q banding, R banding, and FISH used in chromosome analysis.

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Chromosome Structural Rearrangement

Changes in the structure of chromosomes, such as deletions and duplications.

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Mosaicism

Presence of two or more genetically different cell lines in an individual.

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Aberration in Chromosome Number

An abnormal number of chromosomes resulting from non-disjunction.

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Karyotyping Aims

To identify abnormal chromosome numbers and structures.

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Insertion/Deletion (InDel)

Changes to the DNA sequence where nucleotides are added or removed.

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Routine Cytogenetic Analysis

Laboratory method requiring fast-growing white blood cells for analysis.

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Cell Growth in Culture

Cells must grow rapidly in controlled conditions for analysis.

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Constitutive Heterochromatin

A hyper-condensed, late-replicating DNA region, typically found near centromeres.

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Chromosomal Morphological Variant

A variation in the structure of homologous chromosomes detectable through specific staining.

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Heteromorphism Detection

The process of identifying morphological differences between homologous chromosomes.

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High-Resolution Banding

Using advanced staining methods to achieve detailed visual representation of chromosomes.

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Study Notes

Clinical Cytogenetics - Principles

  • Clinical cytogenetics is the study of chromosome structure and number to identify abnormalities.
  • Chromosome abnormalities can lead to various disorders.
  • A karyogram (karyotype) of a normal male shows banded metaphase chromosomes arranged from largest to smallest.

Objectives

  • Understand the principles and importance of clinical cytogenetics.
  • Describe and explain different chromosome abnormalities.
  • Compare, apply methods like karyotyping, FISH, and hybridization to detect disorders.
  • Define and differentiate terms like ploidy, aneuploidy, polyploidy, triploidy, tetraploidy, trisomy, and monosomy.
  • Describe and explain the causes and effects of aneuploidy and polyploidy.
  • Describe and distinguish various chromosome structural rearrangements.
  • Describe the causes and effects of different types of rearrangements.
  • Identify clinical indications for chromosomal disorders.

Karyotyping

  • A karyogram (karyotype) of a normal male shows banded metaphase chromosomes arranged from largest to smallest.
  • Karyotyping is used to determine abnormal chromosome numbers caused by defective duplication or segregation.
  • Karyotyping is also used to determine chromosomal structural abnormalities.

Chromosome Abnormalities

  • Aneuploidy: One or more extra or missing chromosomes (e.g., 45 or 47).
  • Polyploidy: Possessing more than two complete sets of chromosomes.
  • Trisomy / Triploidy: having one extra copy of a chromosome (trisomy) or an extra chromosome set (triploidy).
  • Tetrasomy / Tetraploidy: two extra copies of a single chromosome (tetrasomy), or two extra sets of chromosomes (tetraploidy).
  • Aneuploidy & polyploidy can lead to pregnancy loss, developmental delay, physical malformations, ambiguous genitalia, and mental retardation.

Clinical Indications

  • Early growth and development problems.
  • Physical malformations.
  • Ambiguous genitalia.
  • Mental retardation.
  • Stillbirth and neonatal death, which is 10% or newborns.
  • Fertility issues (amenorrhea, recurrent miscarriage, or history of infertility).
  • Family history of chromosome abnormalities in first-degree relatives.
  • Pregnancy in older women (over 35 years old).
  • Prenatal screening.

Cytogenetic Technology

  • Routine cytogenetic analysis.
  • Q banding.
  • R banding.
  • FISH (fluorescence in situ hybridization).
  • Molecular technologies (e.g., CGH, microarray).
  • Special cytological procedures.

Chromosome Staining Methods

  • G banding: uses Giemsa stain for light and dark bands (GC-rich or AT-rich regions), routinely used in laboratories.
  • Q banding: uses quinacrine mustard; used to identify heteromorphisms.
  • R banding: reverse of G banding, used to study distal chromosome ends.
  • C banding: focuses on centromeric regions and constitutive heterochromatin.
  • Prometaphase banding: higher resolution for identifying subtle chromosomal abnormalities.

Chromosome Classification

  • Metacentric, submetacentric, and acrocentric chromosomes based on centromere location.

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