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Related Concept Videos

Crossing Over01:30

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Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I,...
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Unlike mitosis, meiosis aims for genetic diversity in its creation of haploid gametes. Dividing germ cells first begin this process in prophase I, where each chromosome—replicated in S phase—is now composed of two sister chromatids (identical copies) joined centrally.
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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
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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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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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Chromosome Preparation From Cultured Cells
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Exceptional complex chromosomal rearrangements in three generations.

Hannie Kartapradja1, Nanis Sacharina Marzuki1, Mark D Pertile2

  • 1Eijkman Institute for Molecular Biology, Jl. Diponegoro 69, Jakarta 10430, Indonesia.

Case Reports in Genetics
|February 28, 2015
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Summary

This study details an exceptional complex chromosomal rearrangement (CCR) involving four chromosomes and five breakpoints, identified across three generations of a family. The findings highlight the intricate nature and transmission patterns of such rare genetic variations.

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Area of Science:

  • Human Genetics
  • Cytogenetics
  • Reproductive Genetics

Background:

  • Complex chromosomal rearrangements (CCRs) are rare and can lead to significant genetic imbalances.
  • Understanding the inheritance patterns of CCRs is crucial for genetic counseling and reproductive planning.

Purpose of the Study:

  • To characterize an exceptional complex chromosomal rearrangement (CCR) identified in a family across three generations.
  • To investigate the molecular basis and transmission of a CCR involving four chromosomes and five breakpoints.

Main Methods:

  • Karyotyping was performed on affected and carrier individuals.
  • Whole chromosome painting (WCP) FISH confirmed the CCR in maternal lineage.
  • High-resolution whole-genome microarray analysis assessed for copy number imbalances.

Main Results:

  • An exceptional CCR involving chromosomes 4, 6, 11, and 18 was identified in three family members.
  • The proband exhibited partial trisomy for 6q and 18q, and partial monosomy for 4p due to maternal transmission.
  • The mother and maternal grandmother carried the CCR in an apparently balanced state, confirmed as balanced at a molecular level.

Conclusions:

  • This case represents a rare instance of an exceptional CCR transmitted in both balanced and unbalanced forms over three generations.
  • The study underscores the complexity of chromosomal rearrangements and their potential impact on offspring phenotype.
  • Molecular-level balance in apparently balanced CCRs is essential for accurate genetic risk assessment.