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    Week 2 - Lecture 2 - Structural Chromosome Abnormalities

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    Imkita Mngqundaniso
    Structural chromosome abnormalities are changes in chromosome structure that can include deletions, duplications, translocations, inversions, insertions, ring chromosomes, and isochromosomes. These abnormalities result in missing, extra, or rearranged genetic material on chromosomes. Common examples are deletions associated with Angelman syndrome or Prader-Willi syndrome, translocations linked to recurrent miscarriages, and isochromosome 12p causing Pallister-Killian syndrome. Different genetic tests can be used to detect specific structural chromosome abnormalities.

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    Week 2 - Lecture 2 - Structural Chromosome Abnormalities

    Uploaded by

    Imkita Mngqundaniso
    13 views23 pages
    Structural chromosome abnormalities are changes in chromosome structure that can include deletions, duplications, translocations, inversions, insertions, ring chromosomes, and isochromosomes. These abnormalities result in missing, extra, or rearranged genetic material on chromosomes. Common examples are deletions associated with Angelman syndrome or Prader-Willi syndrome, translocations linked to recurrent miscarriages, and isochromosome 12p causing Pallister-Killian syndrome. Different genetic tests can be used to detect specific structural chromosome abnormalities.

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    Week 2_ Lecture 2_ Structural chromosome abnormalities

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    Structural chromosome abnormalities are changes in chromosome structure that can include deletions, duplications, translocations, inversions, insertions, ring chromosomes, and isochromosomes. These abnormalities result in missing, extra, or rearranged genetic material on chromosomes. Common examples are deletions associated with Angelman syndrome or Prader-Willi syndrome, translocations linked to recurrent miscarriages, and isochromosome 12p causing Pallister-Killian syndrome. Different genetic tests can be used to detect specific structural chromosome abnormalities.

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    © All Rights Reserved
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    13 views23 pages

    Week 2 - Lecture 2 - Structural Chromosome Abnormalities

    Uploaded by

    Imkita Mngqundaniso
    Structural chromosome abnormalities are changes in chromosome structure that can include deletions, duplications, translocations, inversions, insertions, ring chromosomes, and isochromosomes. These abnormalities result in missing, extra, or rearranged genetic material on chromosomes. Common examples are deletions associated with Angelman syndrome or Prader-Willi syndrome, translocations linked to recurrent miscarriages, and isochromosome 12p causing Pallister-Killian syndrome. Different genetic tests can be used to detect specific structural chromosome abnormalities.

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    of 23

    Chromosomes III:

    Structural Chromosome
    Abnormalities
    Monica Araujo | Genetic Counsellor
    monica.araujo@nhls.ac.za
    Lecture Objectives

    After this lecture you should be able to:


    1. Define structural chromosome abnormalities
    2. Discuss the common structural chromosome abnormalities
    3. Provide examples of genetic conditions related to structural
    chromosome abnormalities
    4. Select the appropriate genetic test for detecting the relevant
    structural abnormality

    2
    Structural chromosome abnormalities

    ▣ A chromosome imbalance due to structural changes


    within the chromosome
    □ Deletions
    □ Duplications
    □ Translocations
    □ Inversions
    □ Insertions
    □ Ring chromosomes
    □ Isochromosomes

    3
    Structural chromosome abnormalities

    ▣ One chromosome can have multiple structural


    abnormalities
    ▣ Usually, the total number of chromosomes is normal
    ▣ There is a change in their structure:
    □ Missing
    □ Extra
    □ Switched – in a different place

    4
    Deletions

    ▣ Part of the chromosome is missing or deleted


    □ Terminal or interstitial deletion
    ▣ Some genetic material is missing
    □ Can cause syndromic features
    □ Depends on the genes involved in deletion
    ▣ Sporadic or dominant
    □ If dominant: 50% recurrence risk

    Test: FISH, Array, MLPA or karyotype


    5
    Interstitial and terminal deletions
    6
    Angelman Syndrome Prader Willi Syndrome 22q Deletion Syndrome
    15q11 deletion 15q11 deletion 22q11 deletion

    7
    Duplications

    ▣ Part of the chromosome is duplicated


    □ Terminal or interstitial duplication
    □ Direct (tandem) or inverted
    ▣ Results in extra genetic material
    □ Severity depends on the genes involved
    □ Less severe than deletions
    ▣ Sporadic or inherited
    □ If inherited: 50% recurrence risk
    Test: FISH, Array, MLPA or karyotype
    8
    Interstitial and terminal duplications
    9
    22q Duplication Syndrome
    22q11 duplication

    10
    Translocation: Reciprocal

    ▣ Exchange of material between chromosomes


    ▣ Balanced:
    □ No loss or gain of genetic material
    □ Individuals are usually phenotypically normal
    ▣ Unbalanced:
    □ Gain or loss of genetic material – severity depends on size
    □ Can be inherited from a balanced parent – recurrence is
    complicated

    Test: Array if unbalanced or karyotype if balanced


    11
    Translocation: Robertsonian

    ▣ Exchange between two


    acrocentric chromosomes to form
    one large metacentric
    chromosome
    ▣ Example: 45, XX, rob(13;13)(q10;q10)

    Test: Karyotype
    12
    Reciprocal and Robertsonian translocations
    13
    Recurrent miscarriages
    14
    Inversion

    ▣ Portion of a chromosome broke off, inverted and


    reattached
    ▣ Pericentric or paracentric
    ▣ If isolated the individual is often phenotypically normal
    □ Can be a ‘normal variant’

    Test: Karyotype
    15
    Pericentric and paracentric inversions
    16
    Insertion

    ▣ Portion of a chromosome broke off and is inserted


    elsewhere
    ▣ Interchromosomal or intrachromosomal
    ▣ Direct insertion or inverted insertion

    Test: Karyotype
    17
    Insertion
    18
    Ring chromosome

    ▣ Portion of a chromosome broke off and formed a ring


    ▣ Can happen with or without loss of genetic material
    ▣ Very rare
    ▣ Often severe
    ▣ Usually sporadic

    Test: Karyotype
    19
    Ring chromosome
    20
    Isochromosome

    ▣ Formed by a mirror image copy of a chromosome


    segment
    ▣ Results in a gain and loss of genetic material

    Test: FISH, Array, MLPA or karyotype


    21
    Isochromosome
    22
    Pallister Killian Syndrome
    Isochromosome 12

    23

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