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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...
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.
Polytene Chromosomes02:04

Polytene Chromosomes

Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also regularly...
Polytene Chromosomes02:04

Polytene Chromosomes

Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also regularly...

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Related Experiment Video

Updated: Jun 13, 2026

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

Small supernumerary marker chromosomes 1 with a normal phenotype.

Thomas Liehr1, Rolf-Dieter Wegner, Markus Stumm

  • 1Jena University Hospital, Institute of Human Genetics and Anthropology, Germany. i8lith@mti.uni-jena.de

Journal of the Chinese Medical Association : JCMA
|May 12, 2010
PubMed
Summary

Small supernumerary marker chromosomes (sSMCs) derived from chromosome 1 can cause abnormalities. However, three prenatal cases with these sSMCs had healthy outcomes, highlighting the need for accurate characterization.

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

Last Updated: Jun 13, 2026

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

Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH
07:54

Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH

Published on: August 19, 2014

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
  • Prenatal Diagnostics
  • Molecular Cytogenetics

Background:

  • Small supernumerary marker chromosomes (sSMCs) are a significant challenge in prenatal cytogenetic diagnostics.
  • Over two-thirds of sSMCs originating from chromosome 1 are linked to clinical abnormalities.

Observation:

  • Three prenatal cases involving sSMCs derived from chromosome 1 were identified.
  • These sSMCs were comprehensively characterized using molecular cytogenetics and subcentromere-specific multicolor fluorescence in situ hybridization.
  • The genetic content and potential for uniparental disomy were assessed.

Findings:

  • In all three cases, no additional euchromatin or uniparental disomy was detected in association with the sSMCs.
  • Following thorough characterization, parents chose to continue their pregnancies.
  • All three pregnancies resulted in the birth of healthy children.

Implications:

  • Rapid and precise characterization of prenatal sSMCs is crucial for accurate risk assessment.
  • Establishing comprehensive databases of sSMC cases, like the one at the Jena Institute of Human Genetics and Anthropology, is important for future research and clinical guidance.