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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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...

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Related Experiment Video

Updated: Jun 3, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
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Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Uniparental disomies 7 and 14.

Katrin Hoffmann1, Raoul Heller

  • 1Institute of Medical Genetics, Campus Virchow-Klinikum, Charité, Augustenburger Platz 1, Berlin, Germany. katrin.hoffmann.genetik@charite.de

Best Practice & Research. Clinical Endocrinology & Metabolism
|March 15, 2011
PubMed
Summary

Uniparental disomy (UPD) occurs when both chromosomes come from one parent, disrupting genomic imprinting. This can lead to various genetic disorders, including Silver-Russell and Temple syndromes, depending on the chromosome and parental origin.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Normally, individuals inherit one chromosome from each parent.
  • Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from a single parent.
  • Genomic imprinting disturbances are the underlying cause of UPD syndromes.

Purpose of the Study:

  • To explain diagnostic strategies for UPD(7) and UPD(14) syndromes.
  • To discuss management of patients with UPD(7) and UPD(14).
  • To outline areas for future research in UPD.

Main Methods:

  • Review of clinical presentations of UPD syndromes.
  • Analysis of genetic heterogeneity in UPD(7) and UPD(14).
  • Discussion of diagnostic and management approaches.

Main Results:

  • Paternal UPD(7) is clinically silent, while maternal UPD(7) causes Silver-Russell syndrome.
  • Paternal UPD(14) (Kagami syndrome) presents as a dysplasia syndrome with intellectual disability.
  • Maternal UPD(14) (Temple syndrome) overlaps with Prader-Willi syndrome, featuring failure to thrive, obesity, and developmental issues.

Conclusions:

  • UPD syndromes have diverse phenotypes dependent on the chromosome and parental origin.
  • Effective diagnosis and management require understanding the specific UPD.
  • Further research is needed to fully elucidate UPD mechanisms and treatments.