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Related Concept Videos

Karyotyping01:17

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Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
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As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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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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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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Related Experiment Video

Updated: Dec 29, 2025

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
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Tetrasomy 18p Case Report.

Yi He, Juan-Juan Liao, Ying-Lin Liu

    Clinical Laboratory
    |February 5, 2020
    PubMed
    Summary

    Tetrasomy 18p, a rare genetic disorder, was identified as a de novo case in a patient with four copies of chromosome 18 short arm. The marker chromosome may originate from the mother, potentially influencing the isochromosome 18.

    Area of Science:

    • Genetics
    • Molecular Biology
    • Clinical Diagnostics

    Background:

    • Tetrasomy 18p is a rare chromosomal disorder, representing the most common isochromosome type, affecting approximately 250 families globally.
    • This report details a de novo case of Tetrasomy 18p, contributing to the understanding of this rare condition.

    Observation:

    • Microarray analysis revealed duplication in the 18p11.32p11.21 region, indicating tetrasomy 18p.
    • Karyotype analysis showed 48,XY,+2mar?, with FISH confirming 48,XY,+i(18)(p10),+mar.ish.
    • MLPA technology confirmed an increased copy number of the short arm of chromosome 18.

    Findings:

    • The patient presented with tetrasomy 18p (four copies of 18p11.32p11.21).
    • Karyotype analysis of the mother revealed 47,XX,+mar, while the father's karyotype was normal.

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  • The patient's marker chromosome may be maternally inherited, potentially influencing the development of isochromosome 18.

    • Implications:

    • This case highlights the importance of comprehensive genetic analysis, including parental testing, in diagnosing rare chromosomal abnormalities.
    • Understanding the origin of marker chromosomes is crucial for assessing recurrence risks and potential phenotypic effects.
    • Further research into the role of maternal marker chromosomes in isochromosome formation is warranted.