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Related Concept Videos

Nondisjunction01:21

Nondisjunction

4.5K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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Nondisjunction01:29

Nondisjunction

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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Separation of Sister Chromatids02:17

Separation of Sister Chromatids

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At the transition from prophase to metaphase, there is a reduction in cohesion along the chromosomal arms, resulting in the resolution of sister chromatids. However, residual cohesin connections remain to hold the sister chromatids together until the transition from metaphase to anaphase. The residual connection prevents any premature separation of sister chromatids, blocking the risks of aneuploidy within the daughter cells.
At the onset of anaphase, separase, a proteolytic enzyme, is...
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Meiosis II02:02

Meiosis II

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Meiosis II entails cell division and segregation of the sister chromatids, resulting in the production of four unique haploid gametes. The steps for meiosis II are similar to mitosis, except that meiosis II occurs in haploid cells, whereas mitosis occurs in diploid cells.
The timing and cell division patterns of meiosis differ between males and females. In male meiosis, the centrosomes are part of the formation of the meiotic spindle. However, in oocytes, including that of humans, Drosophila,...
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Related Experiment Video

Updated: Apr 26, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Single cell segmental aneuploidy detection is compromised by S phase.

Eftychia Dimitriadou1, Niels Van der Aa2, Jiqiu Cheng1

  • 1Laboratory for Cytogenetics and Genome Research, Department of Human Genetics, KU Leuven, Leuven 3000, Belgium.

Molecular Cytogenetics
|July 31, 2014
PubMed
Summary
This summary is machine-generated.

Preimplantation genetic diagnosis (PGD) accuracy is reduced in S-phase cells due to variable copy number status. Analyzing cell cycle phase is crucial for accurate detection of chromosomal imbalances in PGD.

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Detection of Copy Number Alterations Using Single Cell Sequencing
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Detection of Copy Number Alterations Using Single Cell Sequencing

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Area of Science:

  • Genetics
  • Reproductive Biology
  • Genomic Medicine

Background:

  • Balanced translocations increase risk of unbalanced gametes, leading to miscarriages and birth defects.
  • Preimplantation genetic diagnosis (PGD) is utilized to select chromosomally normal embryos for implantation.
  • Current PGD methods, primarily array comparative genomic hybridization (aCGH), do not account for cell cycle phase variations.

Purpose of the Study:

  • To evaluate the impact of cell cycle phase on the accuracy of single-cell aCGH for detecting chromosomal imbalances.
  • To determine if S-phase cells affect the reliability of PGD for translocation carriers.

Main Methods:

  • Utilized cell lines from three patients with chromosomal imbalances.
  • Sorted cells into different cell cycle phases using flow cytometry.
  • Performed whole genome amplification and analyzed single cells using BAC arrays, a common PGD platform.

Main Results:

  • Chromosomal imbalances were accurately identified in G-phase cells.
  • Less than half of the probes detected aberrations in S-phase cells, significantly reducing diagnostic accuracy.
  • Reduced accuracy in S-phase cells poses a risk of misdiagnosis in PGD.

Conclusions:

  • The accuracy of detecting segmental chromosomal imbalances is diminished in S-phase cells.
  • Cell cycle phase is a critical factor that must be considered in PGD analysis.
  • This finding necessitates improvements in PGD technologies to account for cell cycle variations.