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Related Concept Videos

Meiosis I01:49

Meiosis I

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 a...
Meiosis I03:09

Meiosis I

Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Nondisjunction01:29

Nondisjunction

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.
Nondisjunction01:21

Nondisjunction

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 sister...

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Related Experiment Video

Updated: Jul 11, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
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The origin of trisomy 13.

Heather E Hall1, E Ricky Chan, Andrew Collins

  • 1Center for Reproductive Biology and School of Molecular Biosciences, Washington State University, Pullman, Washington 99164-4660, USA.

American Journal of Medical Genetics. Part A
|September 14, 2007
PubMed
Summary

Trisomy 13, a common pregnancy trisomy, primarily originates from maternal meiosis errors. Unexpectedly, maternal meiosis II errors contribute significantly, differentiating it from other trisomies.

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Area of Science:

  • Genetics
  • Reproductive Biology
  • Human Chromosome Abnormalities

Background:

  • Trisomy 13 (Patau syndrome) is a frequent chromosomal abnormality in recognized pregnancies and livebirths.
  • The precise mechanisms leading to trisomy 13 remain incompletely understood.
  • Investigating the origin of the extra chromosome is crucial for understanding its etiology.

Purpose of the Study:

  • To investigate the origin of the extra chromosome in trisomy 13.
  • To determine the meiotic stage and parental origin of nondisjunction events in trisomy 13.
  • To compare error patterns in trisomy 13 with other autosomal trisomies.

Main Methods:

  • Analysis of chromosomal origin in 78 cases of trisomy 13.
  • Utilizing molecular techniques to trace parental origin and meiotic errors.
  • Statistical analysis of nondisjunction events across meiosis I and meiosis II.

Main Results:

  • The majority of trisomy 13 cases (>91%) are of maternal origin.
  • Errors during maternal meiosis I are the predominant cause, consistent with other autosomal trisomies.
  • A significant proportion of errors (~37%) occur during maternal meiosis II, a unique finding for trisomy 13.
  • Failure to recombine is a notable factor contributing to chromosome 13 nondisjunction.

Conclusions:

  • Maternal meiosis errors, particularly in meiosis I, are the primary cause of trisomy 13.
  • Maternal meiosis II errors play a more substantial role in trisomy 13 than in other trisomies.
  • Understanding these specific meiotic errors provides insights into the pathogenesis of trisomy 13.