Structural Chromosome Abnormalities Quiz
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Questions and Answers

Which technique provides information about structural abnormalities and requires global mosaicism?

  • Interphase FISH
  • Metaphase FISH
  • GMA
  • G-banded chromosomes (correct)

What is the rate of unbalanced structural rearrangements in newborns per 1000 births?

  • 0.16
  • 0.97
  • 2.04
  • 0.63 (correct)

Which type of structural abnormality is less frequently detected in newborns per 1000 births than others listed?

  • Deletions, rings (correct)
  • Robertsonian Translocations
  • Inversions
  • Balanced Structural Rearrangements

Which type of FISH does not require global mosaicism but provides structural information?

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

What is the resolution of GMA in kb?

<p>10-100's (A)</p> Signup and view all the answers

What is a characteristic of structural chromosome abnormalities?

<p>They can involve either balanced or unbalanced rearrangements. (D)</p> Signup and view all the answers

Which mechanism is responsible for double-stranded breaks that are incorrectly repaired leading to structural chromosome abnormalities?

<p>Non-homologous end-joining (B)</p> Signup and view all the answers

In structural abnormalities, what does the notation 'del(11)(p11.2p13)' signify?

<p>A deletion on chromosome 11 between bands p11.2 and p13. (A)</p> Signup and view all the answers

Which of the following best defines a Robertsonian translocation?

<p>A whole arm translocation between acrocentric chromosomes. (D)</p> Signup and view all the answers

The term 'mos' in karyotype nomenclature stands for what condition?

<p>The presence of multiple cell lines or clones. (B)</p> Signup and view all the answers

Flashcards

Chromosome Analysis (G-banding)

A technique that examines the entire chromosome complement, providing a detailed view of the chromosomes' banding pattern.

FISH (Fluorescence In Situ Hybridization)

A technique that uses fluorescent probes to detect specific DNA sequences on chromosomes.

Metaphase FISH

A type of FISH that detects abnormalities affecting a large portion of a chromosome. It examines the chromosomes during cell division.

Interphase FISH

A type of FISH analysis that examines chromosomes while they're in their relaxed state and doesn't require cell division.

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GMA (Genomic Microarray Analysis)

A technique that uses a gene-specific probe and a microscope to detect specific genes within a chromosome.

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What is a structural chromosome abnormality?

Structural rearrangements of chromosomes are caused by breakage and rejoining of chromosome segments. These can be balanced, where the genetic material is rearranged but not lost or gained, or unbalanced, where there is a net loss or gain of genetic material.

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How do non-allelic homologous recombination (NAHR) events occur?

Non-allelic homologous recombination (NAHR) is a process where exchange occurs between homologous but non-allelic sequences, often mediated by low-copy repeats (LCRs). This can lead to deletions, duplications, and other rearrangements.

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What role does non-homologous end-joining (NHEJ) play in cytogenetics?

Non-homologous end-joining (NHEJ) repairs double-stranded breaks in DNA, but it can sometimes result in incorrect rejoining of the broken ends, leading to structural chromosome abnormalities. NHEJ can be a major factor in cancer development.

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How do replication errors contribute to structural chromosome abnormalities?

Fork stalling and template switching (FoSTes) is a mechanism where the lagging strand during replication invades other replication forks. This can lead to deletions, duplications, and other rearrangements.

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What are low-copy repeats (LCRs) and how do they relate to chromosomal rearrangements?

Low-copy repeats (LCRs) are segments of DNA that are highly similar to each other but are located at different positions in the genome. They often mediate NAHR events, leading to recurrent chromosomal rearrangements.

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