Genetics: Translocation and Chromosomal Abnormalities
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Questions and Answers

What type of translocation involves the exchange of genetic material between two non-homologous chromosomes?

  • Reciprocal translocation (correct)
  • Inversion
  • Robertsonian translocation
  • Insertion

    • What is the result of a Robertsonian translocation?

  • A break at the centromere of two homologous chromosomes
  • A loss of genetic material
  • A fusion of the long arms of two acrocentric chromosomes (correct)
  • A gain of genetic material

    • What is the karyotype of a normal carrier with a Robertsonian translocation?

  • 46,XX,t(3q;17q)
  • 46,XY,-14,+rob(14q21q)
  • 47,XY,+21
  • 45,XX,-14,-21,+t(14q21q) (correct)

    • Which type of translocation is always unbalanced?

    <p>Deletion</p> Signup and view all the answers

    What is the consequence of a Robertsonian translocation in a normal carrier?

    <p>The carrier is unaffected but may produce offspring with a genetic disorder</p> Signup and view all the answers

    What is the difference between a reciprocal translocation and a Robertsonian translocation?

    <p>Reciprocal translocation involves the exchange of genetic material, while Robertsonian translocation involves the fusion of long arms</p> Signup and view all the answers

    Which type of translocation can be balanced or unbalanced?

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

    What is the result of a balanced reciprocal translocation?

    <p>No loss or gain of genetic material</p> Signup and view all the answers

    What is the karyotype of a carrier with a Robertsonian translocation that produces a child with Down syndrome?

    <p>46,XY,-14,+rob(14q21q)</p> Signup and view all the answers

    Which type of structural abnormality is always unbalanced?

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

    What is the characteristic of reciprocal translocation?

    <p>It involves the exchange of genetic material between two non-homologous chromosomes</p> Signup and view all the answers

    What is the outcome of a Robertsonian translocation?

    <p>A reduction in chromosome number</p> Signup and view all the answers

    What is the characteristic of a balanced translocation?

    <p>It does not result in a loss or gain of genetic material</p> Signup and view all the answers

    What is the consequence of a Robertsonian translocation in a normal carrier?

    <p>The carrier is always normal</p> Signup and view all the answers

    What is the difference between a reciprocal translocation and a Robertsonian translocation?

    <p>One involves the exchange of genetic material, while the other involves the fusion of genetic material</p> Signup and view all the answers

    Which type of structural abnormality may be balanced or unbalanced?

    <p>Inversions</p> Signup and view all the answers

    What is the karyotype of a carrier with a Robertsonian translocation that produces a child with Down syndrome?

    <p>45,XY,-14,+rob(14q21q)</p> Signup and view all the answers

    What is the characteristic of a Robertsonian translocation?

    <p>It involves the fusion of genetic material between two acrocentric chromosomes</p> Signup and view all the answers

    What is the outcome of a reciprocal translocation?

    <p>No loss or gain of genetic material</p> Signup and view all the answers

    Which type of structural abnormality is always unbalanced?

    <p>Deletions</p> Signup and view all the answers

    What is the main difference between reciprocal translocation and Robertsonian translocation?

    <p>The location of the break in the chromosomes</p> Signup and view all the answers

    What is the consequence of a balanced reciprocal translocation?

    <p>No net loss or gain of genetic material</p> Signup and view all the answers

    What is the characteristic of a Robertsonian translocation carrier?

    <p>Has a normal phenotype</p> Signup and view all the answers

    What is the outcome of a Robertsonian translocation in a normal carrier?

    <p>May produce a child with Down syndrome</p> Signup and view all the answers

    Which type of structural abnormality is characterized by the fusion of two acrocentric chromosomes?

    <p>Robertsonian translocation</p> Signup and view all the answers

    What is the consequence of a deletion?

    <p>Loss of genetic material</p> Signup and view all the answers

    What is the characteristic of an unbalanced translocation?

    <p>Loss or gain of genetic material</p> Signup and view all the answers

    What is the result of a reciprocal translocation between two chromosomes?

    <p>Two derivative chromosomes with no net loss or gain of genetic material</p> Signup and view all the answers

    What is the characteristic of an isochromosome?

    <p>Is always unbalanced</p> Signup and view all the answers

    What is the consequence of an inversion?

    <p>No net loss or gain of genetic material</p> Signup and view all the answers

    What is the key feature of reciprocal translocation?

    <p>Exchange of genetic material between two non-homologous chromosomes</p> Signup and view all the answers

    Which type of translocation is always functionally balanced?

    <p>Robertsonian translocation</p> Signup and view all the answers

    What is the outcome of a Robertsonian translocation in a normal carrier?

    <p>No loss of genetic material, but a reduction in chromosome number</p> Signup and view all the answers

    Which type of translocation may be unbalanced?

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

    What is the characteristic of an isochromosome?

    <p>A chromosome with two identical arms</p> Signup and view all the answers

    Which type of structural abnormality is characterized by a break at or near the centromere?

    <p>Robertsonian translocation</p> Signup and view all the answers

    What is the karyotype of a carrier with a Robertsonian translocation that produces a child with Down syndrome?

    <p>45,XX,-14,-21,+t(14q21q)</p> Signup and view all the answers

    Which type of translocation involves the fusion of two acrocentric chromosomes?

    <p>Robertsonian translocation</p> Signup and view all the answers

    What is the consequence of a deletion?

    <p>Loss of important genetic material</p> Signup and view all the answers

    Which type of structural abnormality may result in the production of a child with Down syndrome?

    <p>Robertsonian translocation</p> Signup and view all the answers

    Study Notes

    Translocation

    • Involves exchange of genetic material between two chromosomes, with two types: Reciprocal translocation and Robertsonian translocation (centric fusion)

    Reciprocal Translocation

    • No loss of genetic material, but an exchange of genetic material between two non-homologous chromosomes to form two derivative chromosomes
    • Example: balanced reciprocal translocation between a chromosome 3 and a chromosome 17, with a G-banding karyotype of 46, XX, t (3q;17q)

    Robertsonian Translocation (Centric Fusion)

    • Results from break at or near the centromere in two acrocentric chromosomes (D/D, D/G, G/G) and subsequent fusion of their long arms
    • The fragment formed by fusion of their short arms is lost
    • Functionally balanced translocation, although chromosome number is reduced to 45
    • Carriers are normal because the two short arms that are lost do not carry important genetic material
    • Example: Normal carrier with a G-banding karyotype of 45,XX,-14,-21,+t(14q21q)

    Production of Down Syndrome

    • A normal carrier of Robertsonian translocation can produce Down syndrome
    • Example: G-banding karyotype of 46,XY,-14,+rob(14q21q) (Down Syndrome)

    Types of Structural Abnormalities

    • Deletions, ring chromosomes, and isochromosomes are always unbalanced
    • Inversions, insertion, reciprocal translocations, and Robertsonian translocations may be balanced or unbalanced

    Karyotype Nomenclature

    • Normal female or male: 46, XX or 46,XY
    • Plus (+) or minus (-) sign followed by a number indicates an extra or missing entire chromosome: e.g. 47,XX,+21 or 45, XX, -15
    • When a piece of a chromosome is missing, the chromosome number is indicated followed by a 'p' or 'q' and a minus (-) sign: e.g. 5p-
    • Other notations include 'del' (deletion), 'dup' (duplication), 'inv' (inversion), 'ins' (insertion), 's' (satellite), 'rob' (Robertsonian translocation), and 't' (translocation)

    Translocation

    • Involves exchange of genetic material between two chromosomes, with two types: Reciprocal translocation and Robertsonian translocation (centric fusion)

    Reciprocal Translocation

    • No loss of genetic material, but an exchange of genetic material between two non-homologous chromosomes to form two derivative chromosomes
    • Example: balanced reciprocal translocation between a chromosome 3 and a chromosome 17, with a G-banding karyotype of 46, XX, t (3q;17q)

    Robertsonian Translocation (Centric Fusion)

    • Results from break at or near the centromere in two acrocentric chromosomes (D/D, D/G, G/G) and subsequent fusion of their long arms
    • The fragment formed by fusion of their short arms is lost
    • Functionally balanced translocation, although chromosome number is reduced to 45
    • Carriers are normal because the two short arms that are lost do not carry important genetic material
    • Example: Normal carrier with a G-banding karyotype of 45,XX,-14,-21,+t(14q21q)

    Production of Down Syndrome

    • A normal carrier of Robertsonian translocation can produce Down syndrome
    • Example: G-banding karyotype of 46,XY,-14,+rob(14q21q) (Down Syndrome)

    Types of Structural Abnormalities

    • Deletions, ring chromosomes, and isochromosomes are always unbalanced
    • Inversions, insertion, reciprocal translocations, and Robertsonian translocations may be balanced or unbalanced

    Karyotype Nomenclature

    • Normal female or male: 46, XX or 46,XY
    • Plus (+) or minus (-) sign followed by a number indicates an extra or missing entire chromosome: e.g. 47,XX,+21 or 45, XX, -15
    • When a piece of a chromosome is missing, the chromosome number is indicated followed by a 'p' or 'q' and a minus (-) sign: e.g. 5p-
    • Other notations include 'del' (deletion), 'dup' (duplication), 'inv' (inversion), 'ins' (insertion), 's' (satellite), 'rob' (Robertsonian translocation), and 't' (translocation)

    Translocation

    • Involves exchange of genetic material between two chromosomes, with two types: Reciprocal translocation and Robertsonian translocation (centric fusion)

    Reciprocal Translocation

    • No loss of genetic material, but an exchange of genetic material between two non-homologous chromosomes to form two derivative chromosomes
    • Example: balanced reciprocal translocation between a chromosome 3 and a chromosome 17, with a G-banding karyotype of 46, XX, t (3q;17q)

    Robertsonian Translocation (Centric Fusion)

    • Results from break at or near the centromere in two acrocentric chromosomes (D/D, D/G, G/G) and subsequent fusion of their long arms
    • The fragment formed by fusion of their short arms is lost
    • Functionally balanced translocation, although chromosome number is reduced to 45
    • Carriers are normal because the two short arms that are lost do not carry important genetic material
    • Example: Normal carrier with a G-banding karyotype of 45,XX,-14,-21,+t(14q21q)

    Production of Down Syndrome

    • A normal carrier of Robertsonian translocation can produce Down syndrome
    • Example: G-banding karyotype of 46,XY,-14,+rob(14q21q) (Down Syndrome)

    Types of Structural Abnormalities

    • Deletions, ring chromosomes, and isochromosomes are always unbalanced
    • Inversions, insertion, reciprocal translocations, and Robertsonian translocations may be balanced or unbalanced

    Karyotype Nomenclature

    • Normal female or male: 46, XX or 46,XY
    • Plus (+) or minus (-) sign followed by a number indicates an extra or missing entire chromosome: e.g. 47,XX,+21 or 45, XX, -15
    • When a piece of a chromosome is missing, the chromosome number is indicated followed by a 'p' or 'q' and a minus (-) sign: e.g. 5p-
    • Other notations include 'del' (deletion), 'dup' (duplication), 'inv' (inversion), 'ins' (insertion), 's' (satellite), 'rob' (Robertsonian translocation), and 't' (translocation)

    Translocation

    • Involves exchange of genetic material between two chromosomes, with two types: Reciprocal translocation and Robertsonian translocation (centric fusion)

    Reciprocal Translocation

    • No loss of genetic material, but an exchange of genetic material between two non-homologous chromosomes to form two derivative chromosomes
    • Example: balanced reciprocal translocation between a chromosome 3 and a chromosome 17, with a G-banding karyotype of 46, XX, t (3q;17q)

    Robertsonian Translocation (Centric Fusion)

    • Results from break at or near the centromere in two acrocentric chromosomes (D/D, D/G, G/G) and subsequent fusion of their long arms
    • The fragment formed by fusion of their short arms is lost
    • Functionally balanced translocation, although chromosome number is reduced to 45
    • Carriers are normal because the two short arms that are lost do not carry important genetic material
    • Example: Normal carrier with a G-banding karyotype of 45,XX,-14,-21,+t(14q21q)

    Production of Down Syndrome

    • A normal carrier of Robertsonian translocation can produce Down syndrome
    • Example: G-banding karyotype of 46,XY,-14,+rob(14q21q) (Down Syndrome)

    Types of Structural Abnormalities

    • Deletions, ring chromosomes, and isochromosomes are always unbalanced
    • Inversions, insertion, reciprocal translocations, and Robertsonian translocations may be balanced or unbalanced

    Karyotype Nomenclature

    • Normal female or male: 46, XX or 46,XY
    • Plus (+) or minus (-) sign followed by a number indicates an extra or missing entire chromosome: e.g. 47,XX,+21 or 45, XX, -15
    • When a piece of a chromosome is missing, the chromosome number is indicated followed by a 'p' or 'q' and a minus (-) sign: e.g. 5p-
    • Other notations include 'del' (deletion), 'dup' (duplication), 'inv' (inversion), 'ins' (insertion), 's' (satellite), 'rob' (Robertsonian translocation), and 't' (translocation)

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    Description

    Learn about translocation, a type of chromosomal abnormality, including reciprocal translocation and Robertsonian translocation. Understand how genetic material is exchanged between chromosomes.

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