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Related Concept Videos

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.
Karyotyping01:17

Karyotyping

Overview
Karyotyping01:17

Karyotyping

Overview
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...
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.

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Related Experiment Video

Updated: May 10, 2026

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Disorders caused by chromosome abnormalities.

Aaron Theisen1, Lisa G Shaffer

  • 1Signature Genomic Laboratories, Spokane, WA, USA.

The Application of Clinical Genetics
|June 19, 2013
PubMed
Summary
This summary is machine-generated.

Unbalanced chromosome abnormalities cause genetic disorders by altering gene dosage. Advanced molecular cytogenetics and microarrays identify submicroscopic imbalances, enabling new syndrome discovery and gene identification.

Keywords:
chromosomedeletionduplicationsegmental duplicationtelomere

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Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

Area of Science:

  • Human Genetics
  • Molecular Cytogenetics
  • Genomic Medicine

Background:

  • Human genetic disorders frequently arise from unbalanced chromosome abnormalities, leading to a net gain or loss of genetic material.
  • These imbalances can affect numerous dosage-sensitive genes crucial for development, resulting in complex phenotypes.
  • While traditional methods relied on microscopic examination, molecular cytogenetic techniques have revealed submicroscopic chromosomal alterations.

Purpose of the Study:

  • To highlight the advancements in identifying chromosomal abnormalities and their role in genetic disorders.
  • To emphasize the utility of molecular cytogenetics and microarrays in discovering new genetic syndromes.
  • To explain the genotype-first approach for identifying novel syndromes based on genomic alterations.

Main Methods:

  • Utilizing molecular cytogenetic technologies like fluorescence in situ hybridization (FISH) and microarrays.
  • Employing a genotype-first approach to identify patients with similar genomic alterations.
  • Analyzing overlapping deletions and varying clinical features to narrow down candidate gene regions.

Main Results:

  • Molecular cytogenetics allows for the detection of cryptic or submicroscopic chromosomal imbalances.
  • Microarrays have facilitated the identification of numerous new genetic syndromes.
  • The genotype-first approach aids in describing phenotypes associated with specific genomic alterations.

Conclusions:

  • Advanced molecular techniques have significantly improved the detection of chromosomal abnormalities.
  • Microarray technology and genotype-first approaches are powerful tools for discovering novel genetic syndromes.
  • Identifying individuals with overlapping deletions can help pinpoint candidate genes responsible for specific phenotypes.