Genetics CML and Chromosomal Abnormalities
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What is the name of the chromosomal abnormality associated with 95% of CML cases?

  • Trisomy 21
  • Turner syndrome
  • Down syndrome
  • Philadelphia chromosome (correct)

    • What type of chromosomal abnormality is the Philadelphia chromosome?

  • Duplication
  • Inversion
  • Deletion
  • Translocation (correct)

    • What is the significance of the hybrid gene formed by the Philadelphia chromosome?

  • It leads to the development of Chronic Myelogenous Leukemia (CML). (correct)
  • It causes the formation of the Turner syndrome phenotype.
  • It is responsible for the development of Down syndrome.
  • It is involved in the regulation of cell growth and development.

    • Which of the following techniques is most commonly used to detect the Philadelphia chromosome?

    <p>Fluorescence In Situ Hybridization (FISH) (A), Karyotyping (B)</p> Signup and view all the answers

    Why is the Philadelphia chromosome not a definitive diagnostic tool for CML?

    <p>It can also be found in some cases of Acute Lymphoblastic Leukemia (ALL). (B)</p> Signup and view all the answers

    What is the main difference between Karyotyping and FISH?

    <p>Karyotyping analyzes the entire chromosome set while FISH identifies specific DNA sequences. (A)</p> Signup and view all the answers

    What does the notation 't(9;22)(q34;q11)' represent?

    <p>An exchange of genetic material between regions q34 of chromosome 9 and q11 of chromosome 22. (B)</p> Signup and view all the answers

    Which of the following techniques is most suitable for detecting microdeletions or duplications in chromosomes?

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

    Which technique is considered a high-resolution method for detecting copy number variations across the entire genome?

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

    What is the primary application of FISH in genetic diagnosis?

    <p>Detecting specific chromosomal abnormalities (C)</p> Signup and view all the answers

    Which of the following is a characteristic of X-linked recessive inheritance?

    <p>Females are typically carriers and usually unaffected. (A)</p> Signup and view all the answers

    Which of the following syndromes is caused by a numerical chromosomal abnormality?

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

    Identify the likely diagnosis for the 6-year-old male in Case Study 1, given his presentation of developmental delays, distinct facial features, and congenital heart defect.

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

    Which diagnostic test would be most appropriate to confirm the diagnosis for the 6-year-old male in Case Study 1?

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

    What is the typical karyotype of a person with Turner Syndrome?

    <p>45, X (D)</p> Signup and view all the answers

    What is the likely diagnosis for the 35-year-old male in Case Study 2, considering his progressive involuntary movements (chorea), mood disturbances, and family history of similar symptoms?

    <p>Huntington's disease (A)</p> Signup and view all the answers

    Which of the following is a diagnostic technique used in detecting Mendelian disorders?

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

    Which diagnostic test would be most suitable for confirming the diagnosis for the 35-year-old male in Case Study 2?

    <p>Genetic testing for Huntington's disease gene (D)</p> Signup and view all the answers

    Which of the following statements is TRUE about Patau Syndrome?

    <p>Children with Patau Syndrome rarely live more than a few months. (D)</p> Signup and view all the answers

    Which of the following is a characteristic of a dominant inheritance pattern in Mendelian disorders?

    <p>The disorder can be inherited from only one parent. (B)</p> Signup and view all the answers

    What is the probable diagnosis for the 12-year-old female in Case Study 3, presented with short stature, webbed neck, and delayed onset of puberty, along with lymphedema of hands and feet during infancy?

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

    Which diagnostic test would most likely confirm the diagnosis of the 12-year-old female in Case Study 3?

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

    Cri-du-chat syndrome is an example of which type of chromosomal abnormality?

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

    Which of the following statements is TRUE about Turner Syndrome?

    <p>It is the only viable monosomy. (A)</p> Signup and view all the answers

    Which of the following is NOT a key feature of autosomal dominant inheritance?

    <p>Requires two copies of the mutated gene for the disorder to manifest (B)</p> Signup and view all the answers

    What is the defining characteristic of a cytogenetic disorder?

    <p>Disorders caused by mutations in chromosomes (C)</p> Signup and view all the answers

    Which genetic disorder is caused by a mutation in the FBN1 gene?

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

    In X-linked recessive inheritance, which of the following is true?

    <p>Affected males usually have a carrier mother. (C)</p> Signup and view all the answers

    What is the term for a person who carries a mutated gene but does not show symptoms of the disease?

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

    Which law of Mendel's inheritance describes the independent assortment of genes during gamete formation?

    <p>Law of Independent Assortment (C)</p> Signup and view all the answers

    Which of the following is a characteristic feature of Huntington's Disease?

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

    What is the primary reason for understanding genetic disorders?

    <p>To improve diagnosis, treatment, and genetic counseling (C)</p> Signup and view all the answers

    Study Notes

    Genetic Diseases

    • Genetic diseases are disorders caused by mutations in genes or chromosomes.
    • Main categories include Mendelian disorders and cytogenetic disorders.
    • Understanding genetic disorders is important for diagnosis, treatment, and genetic counseling.

    Learning Outcomes

    • Learning outcomes include understanding Mendelian disorders and cytogenetic disorders.

    Introduction to Genetics

    • Genetic disorders are caused by mutations in genes or chromosomes.
    • Main categories are Mendelian disorders and cytogenetic disorders.
    • Understanding genetic disorders is crucial for diagnosis, treatment, and genetic counseling.

    Mendel's Laws of Inheritance

    • Mendel's Laws:
      • Law of Segregation: Alleles segregate during gamete formation, each gamete carrying one allele.
      • Law of Independent Assortment: Genes for different traits assort independently of one another.

    Mendelian Inheritance Overview

    • Types of Mendelian Inheritance:
      • Autosomal Dominant
      • Autosomal Recessive
      • X-linked Dominant
      • X-linked Recessive

    Mendel's Laws of Inheritance

    • Law of Segregation: Alleles segregate during gamete formation, ensuring each gamete receives one allele.
    • Law of Independent Assortment: Genes for different traits assort independently of one another, influencing genetic variation.

    Mendel's Laws of Inheritance - Example

    • Example illustrates the inheritance of flower color, showing the 3:1 ratio of purple to white flowers in the F2 generation.

    Autosomal Dominant Inheritance

    • Definition: One copy of the mutated gene causes the disorder.
    • Key Features:
      • Affects males and females equally.
      • 50% chance of passing to offspring.
    • Examples: Marfan Syndrome, Huntington's Disease.

    Autosomal Dominant Pedigree

    • Pedigree charts illustrate the transmission of the trait.

    Autosomal Dominant - Marfan Syndrome

    • Cause: Mutation in the FBN1 gene.
    • Features: Tall stature, long limbs, cardiovascular issues, ocular abnormalities.
    • Diagnosis: Genetic testing, clinical criteria (Ghent criteria).

    Marfan Syndrome - Physical Characteristics

    • Physical characteristics include tall stature, thin build, flexible joints, scoliosis, and cardiovascular and ocular issues.

    Autosomal Dominant - Huntington's Disease

    • Cause: CAG trinucleotide repeat expansion in the HTT gene.
    • Features: Progressive neurodegeneration, involuntary movements, cognitive decline.
    • Diagnosis: Genetic testing for CAG repeat count.

    Huntington's Disease - Physiological Effects

    • Physiological effects include progressive neurodegeneration, involuntary movements, and cognitive decline.

    Autosomal Recessive Inheritance

    • Definition: Two copies of the mutated gene are needed for the disorder to manifest.
    • Key Points:
      • Parents are typically carriers (asymptomatic).
      • 25% chance of offspring inheriting the disorder.
    • Examples: Cystic Fibrosis, Sickle Cell Anemia.

    Autosomal Recessive Inheritance - Pedigree

    • Pedigree charts illustrate the transmission of the trait in various combinations.

    Cytogenetic Disorders Overview

    • Definition: Disorders caused by chromosome number or structure abnormalities.
    • Types:
      • Numerical Abnormalities: e.g., Trisomy 21 (Down Syndrome), Turner Syndrome.
      • Structural Abnormalities: e.g., Deletions, Duplications, Translocations.

    Human Chromosomes (Diagram)

    • Diagram shows different pairs of chromosomes, including numerical examples.

    Numerical Chromosomal Abnormalities

    • Trisomy 21 (Down Syndrome): Extra chromosome 21.
    • Turner Syndrome: Monosomy X (45,X).

    Trisomy 21 (Down Syndrome)

    • Symptoms: Intellectual disability, characteristic facial features.

    Turner Syndrome

    • Symptoms: Short stature, webbed neck.

    Trisomy 13 (Patau Syndrome)

    • Symptoms: Serious eye, brain, and circulatory defects, cleft palate; rarely live more than a few months.

    Cytogenetic Disorders - Turner Syndrome

    • Cause: Monosomy X (missing X chromosome) in females.
    • Features: Short stature, webbed neck, primary amenorrhea.
    • Diagnosis: Karyotyping, prenatal ultrasound (cystic hygroma).

    Structural Chromosomal Abnormalities

    • Deletions: Missing chromosome segment.
    • Duplications: Extra chromosome segment.
    • Translocations: Segment attached to another chromosome.

    Single Chromosome Disorders

    • Deletion: Genetic material is missing.
    • Duplication: Genetic material is present twice.
    • Inversion: Genetic material is "flipped."

    Translocations (Examples)

    • Philadelphia chromosome: Translocation between chromosomes 9 and 22, leading to chronic myelogenous leukemia (CML).

    Diagnostic Techniques for Mendelian Disorders

    • Genetic Testing: Sanger sequencing, next-generation sequencing (NGS).
    • Biochemical Tests: Metabolic screening for enzyme deficiencies.
    • Clinical Evaluation: Family history, physical examination.

    Diagnostic Techniques for Cytogenetic Disorders

    • Karyotyping: Visualizes entire chromosome set.
    • FISH (Fluorescence in Situ Hybridization): Identifies chromosomal regions.
    • Array CGH: Detects microdeletions or duplications.

    Karyotyping Procedure

    • Cells are cultured, arrested at metaphase, and stained.
    • Chromosomes are visualized under a microscope.
    • Used to detect numerical or structural chromosome abnormalities.

    Fluorescence In Situ Hybridization (FISH)

    • DNA probes labeled with fluorescent dyes are hybridized to patient chromosomes.
    • Fluorescent signals are analyzed under a microscope.
    • Helps determine whether specific chromosomal regions are duplicated or deleted.

    Array Comparative Genomic Hybridization (Array CGH)

    • High-resolution technique that detects copy number variations across the entire genome.
    • Patient and control DNA are labeled with different fluorescent dyes and hybridized to a microarray.
    • Fluorescence intensity differences reveal DNA gains or losses in patient cells.

    Case Study 1, 2, 3, 4, 5

    • These are case study examples with questions to analyze likely diagnoses, confirmatory tests, and genetic counseling implications.

    Summary

    • Mendelian Disorders: Inherited following Mendel's laws (dominant/recessive patterns).
    • Cytogenetic Disorders: Chromosome abnormalities (numerical or structural).
    • Importance: Diagnosis, counseling, and personalized treatment.

    Questions and Discussion

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    Genetic Diseases Notes PDF

    Description

    Test your knowledge on chromosomal abnormalities related to Chronic Myeloid Leukemia (CML), specifically the Philadelphia chromosome. This quiz covers techniques for detection, genetic implications, and inheritance patterns associated with these abnormalities.

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