Podcast
Questions and Answers
What is the result of break at or near the centromere in two acrocentric chromosomes during Robertsonian translocation?
What is the result of break at or near the centromere in two acrocentric chromosomes during Robertsonian translocation?
What is the characteristic of a carrier with a Robertsonian translocation?
What is the characteristic of a carrier with a Robertsonian translocation?
What type of translocation involves the exchange of genetic material between two non-homologous chromosomes?
What type of translocation involves the exchange of genetic material between two non-homologous chromosomes?
What is the consequence of a balanced reciprocal translocation?
What is the consequence of a balanced reciprocal translocation?
Signup and view all the answers
How can a normal carrier of a Robertsonian translocation produce an offspring with Down syndrome?
How can a normal carrier of a Robertsonian translocation produce an offspring with Down syndrome?
Signup and view all the answers
What type of translocation is always unbalanced?
What type of translocation is always unbalanced?
Signup and view all the answers
What is the result of a Robertsonian translocation in terms of chromosome number?
What is the result of a Robertsonian translocation in terms of chromosome number?
Signup and view all the answers
What type of chromosomal abnormalities may be balanced or unbalanced?
What type of chromosomal abnormalities may be balanced or unbalanced?
Signup and view all the answers
What is the main difference between reciprocal translocation and Robertsonian translocation?
What is the main difference between reciprocal translocation and Robertsonian translocation?
Signup and view all the answers
Which type of translocation can result in a balanced or unbalanced karyotype?
Which type of translocation can result in a balanced or unbalanced karyotype?
Signup and view all the answers
What is the characteristic of a derivative chromosome in reciprocal translocation?
What is the characteristic of a derivative chromosome in reciprocal translocation?
Signup and view all the answers
What happens to the short arms in a Robertsonian translocation?
What happens to the short arms in a Robertsonian translocation?
Signup and view all the answers
What is the outcome of a balanced reciprocal translocation in terms of chromosome number?
What is the outcome of a balanced reciprocal translocation in terms of chromosome number?
Signup and view all the answers
What is the characteristic of a deletion?
What is the characteristic of a deletion?
Signup and view all the answers
What is the karyotype of a carrier with a Robertsonian translocation?
What is the karyotype of a carrier with a Robertsonian translocation?
Signup and view all the answers
What is the difference between reciprocal translocation and inversion?
What is the difference between reciprocal translocation and inversion?
Signup and view all the answers
Which type of chromosomal abnormality can result in a Down syndrome?
Which type of chromosomal abnormality can result in a Down syndrome?
Signup and view all the answers
What is the common characteristic of isochromosomes and ring chromosomes?
What is the common characteristic of isochromosomes and ring chromosomes?
Signup and view all the answers
What is the main consequence of a reciprocal translocation between two non-homologous chromosomes?
What is the main consequence of a reciprocal translocation between two non-homologous chromosomes?
Signup and view all the answers
Which type of chromosomal abnormality can result in a functionally balanced karyotype with a reduced chromosome number?
Which type of chromosomal abnormality can result in a functionally balanced karyotype with a reduced chromosome number?
Signup and view all the answers
What is the characteristic of a karyotype resulting from a reciprocal translocation between two non-homologous chromosomes?
What is the characteristic of a karyotype resulting from a reciprocal translocation between two non-homologous chromosomes?
Signup and view all the answers
What is the consequence of a Robertsonian translocation in terms of the genetic material carried by the lost short arms?
What is the consequence of a Robertsonian translocation in terms of the genetic material carried by the lost short arms?
Signup and view all the answers
Which type of chromosomal abnormality is always unbalanced?
Which type of chromosomal abnormality is always unbalanced?
Signup and view all the answers
What is the karyotype of an offspring with Down syndrome resulting from a Robertsonian translocation?
What is the karyotype of an offspring with Down syndrome resulting from a Robertsonian translocation?
Signup and view all the answers
What is the main difference between reciprocal translocation and inversion?
What is the main difference between reciprocal translocation and inversion?
Signup and view all the answers
What is the consequence of a reciprocal translocation in terms of the genetic material carried by the derivative chromosomes?
What is the consequence of a reciprocal translocation in terms of the genetic material carried by the derivative chromosomes?
Signup and view all the answers
What is the characteristic of a carrier with a balanced reciprocal translocation?
What is the characteristic of a carrier with a balanced reciprocal translocation?
Signup and view all the answers
Which type of chromosomal abnormality can result in a Down syndrome, but is not a Robertsonian translocation?
Which type of chromosomal abnormality can result in a Down syndrome, but is not a Robertsonian translocation?
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)
Studying That Suits You
Use AI to generate personalized quizzes and flashcards to suit your learning preferences.
Description
Learn about the two types of chromosomal translocation, reciprocal and Robertsonian, and how they affect genetic material. Understand the differences between these translocations and their effects on chromosomes.
