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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.
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

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Updated: Jul 4, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
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Complex and segmental uniparental disomy updated.

D Kotzot1

  • 1Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Schoepfstr. 41, A-6020 Innsbruck, Austria. DieterKotzot@gmx.de

Journal of Medical Genetics
|June 6, 2008
PubMed
Summary
This summary is machine-generated.

This review highlights the increasing number of reported cases with segmental uniparental disomy (UPD) and complex UPD, emphasizing their impact on medical genetics. Understanding these complex chromosomal abnormalities is crucial for accurate genetic counseling and risk assessment.

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Area of Science:

  • Genetics
  • Human Genetics
  • Medical Genetics

Background:

  • Uniparental disomy (UPD) occurs when a child inherits two copies of a chromosome from one parent and none from the other.
  • Segmental and complex UPD cases present unique challenges in genetic analysis and counseling.
  • Previous studies have documented various forms of UPD, but a comprehensive review of complex cases was needed.

Purpose of the Study:

  • To systematically review all reported cases of segmental and/or complex uniparental disomy (UPD).
  • To analyze the impact of these complex UPD cases on the field of medical genetics.
  • To provide an updated understanding of the mechanisms and implications of UPD.

Main Methods:

  • Conducted a comprehensive literature search of published reports in PubMed.
  • Included abstracts from annual meetings of the American Society of Human Genetics and the European Society of Human Genetics up to March 2008.
  • Categorized and analyzed cases based on UPD type (segmental, whole chromosome, isochromosome, mosaicism) and associated chromosomal abnormalities.

Main Results:

  • Identified numerous cases of segmental UPD with normal karyotypes and UPD associated with various translocations and isochromosomes.
  • Documented cases involving marker chromosomes, complex karyotypes, and mosaicism for UPD.
  • Observed a notable increase in reported cases of segmental UPD and UPD with marker chromosomes in recent years.

Conclusions:

  • The increasing number of complex UPD cases underscores the intricate nature of meiosis and early postzygotic events.
  • Investigating parental UPD can improve genetic counseling, potentially reducing recurrence risks.
  • While complex mechanisms are involved, recurrence of UPD has not been reported, suggesting invasive prenatal diagnosis may not always be necessary.