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Related Concept Videos

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...
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.
Nondisjunction01:29

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.
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...
What is Meiosis?01:34

What is Meiosis?

Meiosis is the process by which diploid cells divide to produce haploid daughter cells. In humans, each diploid cell contains 46 chromosomes, half from the mother and half from the father. Following meiosis, the resulting haploid eggs or sperm only contain 23 chromosomes; however, each of these chromosomes contains a unique combination of parental information that results from the meiotic process of crossing over.
Although meiosis shares similarities with mitosis—both rely on microtubules to...

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Related Experiment Video

Updated: Jun 4, 2026

Fluorescence in situ hybridization (FISH) Protocol in Human Sperm
16:19

Fluorescence in situ hybridization (FISH) Protocol in Human Sperm

Published on: September 1, 2009

Aneuploidy in human spermatozoa.

C Templado1, F Vidal, A Estop

  • 1Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Spain. cristina.templado@uab.es

Cytogenetic and Genome Research
|February 2, 2011
PubMed
Summary
This summary is machine-generated.

Sperm disomy, or having an extra chromosome, is elevated in men with certain genetic conditions and those fathering aneuploid offspring. This suggests an increased risk for paternally derived aneuploid pregnancies.

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Fluorescence in situ hybridization (FISH) Protocol in Human Sperm
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Area of Science:

  • Reproductive biology
  • Human genetics
  • Cytogenetics

Background:

  • Disomy, the presence of an extra chromosome, can occur in sperm and lead to aneuploid offspring.
  • Understanding the frequency and distribution of sperm disomy is crucial for assessing reproductive risks.
  • Previous studies have investigated sperm disomy in various populations, but comprehensive analysis is needed.

Purpose of the Study:

  • To review and analyze the frequency and distribution of disomy in spermatozoa across different male populations.
  • To compare sperm disomy rates in healthy men, fathers of aneuploid offspring, and individuals with sex chromosome abnormalities.
  • To evaluate the potential link between elevated sperm disomy and the risk of paternally derived aneuploid pregnancies.

Main Methods:

  • Multicolor fluorescence in situ hybridization (FISH) analysis was performed on decondensed sperm nuclei.
  • Sperm samples were obtained from healthy men, fathers of aneuploid offspring, and males with Klinefelter syndrome (47,XXY) and XYY syndrome (47,XYY).
  • Frequencies of autosomal and sex chromosome disomy were quantified and compared across groups.

Main Results:

  • In healthy men, autosomal disomy is approximately 0.1%, with variations across chromosomes (e.g., 0.03% for chromosome 8 to 0.47% for chromosome 22).
  • Chromosomes 21 and sex chromosomes show significantly elevated disomy frequencies in many studies (0.18% and 0.27%, respectively).
  • Total disomy in FISH studies was 2.26%, estimating aneuploidy at 4.5%, which is higher than sperm karyotype findings (1.8%).
  • Increased disomy levels were observed in some normal men ('stable variants') and men fathering children with Down, Turner, and Klinefelter syndromes.
  • Males with Klinefelter (47,XXY) and XYY (47,XYY) syndromes exhibit increased sex chromosome abnormalities, autosomal disomies, and diploid spermatozoa.
  • Sex chromosome aneuploidy is more frequent than autosomal aneuploidy in controls, patients with sex chromosome abnormalities, and fathers of paternally derived Klinefelter, Turner, and Down syndromes.

Conclusions:

  • Men with moderately elevated sperm aneuploidy rates may face a higher risk of fathering paternally derived aneuploid pregnancies.
  • Lifestyle factors like smoking, alcohol, and caffeine consumption require further investigation for their combined effects on sperm aneuploidy.
  • Sex chromosome aneuploidy is a prominent feature in individuals with sex chromosome abnormalities and their offspring, highlighting the importance of cytogenetic analysis.