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Related Concept Videos

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...
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...
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.

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Related Experiment Video

Updated: Jul 3, 2026

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

A case with a ring chromosome 22.

Altuğ Koç1, Kadri Karaer, Mehmet Ali Ergün

  • 1Department of Medical Genetics, Gazi University, Faculty of Medicine, Ankara, Turkey.

The Turkish Journal of Pediatrics
|July 31, 2008
PubMed
Summary
This summary is machine-generated.

Ring chromosome 22 syndrome is a rare genetic disorder. This study details a new patient, highlighting key features and identifying the absence of the Arylsulfatase A region in the ring chromosome.

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

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Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay
06:25

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

Published on: February 6, 2012

Related Experiment Videos

Last Updated: Jul 3, 2026

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

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

Published on: February 3, 2012

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay
06:25

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

Published on: February 6, 2012

Area of Science:

  • Genetics
  • Cytogenetics
  • Rare Chromosomal Disorders

Background:

  • Ring chromosome 22 (r(22)) is a rare cytogenetic abnormality, with approximately 60 cases reported since its initial description in 1968.
  • The syndrome's clinical variability is often attributed to the extent of deleted genetic material near the telomere.

Observation:

  • A new patient with ring chromosome 22 syndrome presented with characteristic features: mental retardation, hypotonia, motor delay, microcephaly, dysmorphic large ears, speech absence, and hyperactivity.
  • Magnetic resonance imaging revealed an arachnoid cyst in the posterior cerebellum.

Findings:

  • Fluorescent in situ hybridization (FISH) analysis confirmed intact 22q11.2 regions (DiGeorge/VCFS/ARSA locus).
  • However, the Arylsulfatase A (ARSA) region at 22q13.3 was found to be absent in the ring chromosome.
  • This represents the first reported Turkish patient with ring chromosome 22 syndrome.

Implications:

  • The findings contribute to understanding the genotype-phenotype correlation in ring chromosome 22 syndrome.
  • Accurate genetic diagnosis using FISH is crucial for characterizing deleted regions and predicting clinical outcomes.
  • This case expands the known spectrum of r(22) manifestations and its geographical distribution.