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Karyotyping01:17

Karyotyping

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Overview
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Nondisjunction01:29

Nondisjunction

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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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Nondisjunction01:21

Nondisjunction

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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...
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Polytene Chromosomes02:04

Polytene Chromosomes

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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...
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Polytene Chromosomes02:04

Polytene Chromosomes

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Lampbrush Chromosomes01:51

Lampbrush Chromosomes

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In 1882, Flemming observed lampbrush chromosomes (LBC) in salamander eggs. Later in 1892, Rückert observed LBCs in shark egg cells and coined the term "lampbrush chromosomes" because they looked like brushes used to clean kerosene lamps.
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
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Related Experiment Video

Updated: Apr 7, 2026

Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH
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Update and Review: Supernumerary Marker Chromosomes.

S Ungerleider1

  • 1Genetics Department, Kaiser Permanente, 260 International Circle, San Jose, CA, 95119, sharon.ungerleider@kp.org.

Journal of Genetic Counseling
|July 5, 2015
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Summary
This summary is machine-generated.

Supernumerary marker chromosomes (SMCs) appear in individuals with both typical and atypical clinical outcomes. This review covers recent advancements in understanding SMCs and their implications for genetic counseling.

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Area of Science:

  • Genetics
  • Human Genetics
  • Chromosomal Abnormalities

Background:

  • Supernumerary marker chromosomes (SMCs) are extra, often small, chromosome segments of unknown origin.
  • SMCs are detected in individuals with diverse clinical presentations, ranging from normal to severely affected phenotypes.
  • The clinical significance of most SMCs remains undetermined due to limited genotype-phenotype correlation data.

Purpose of the Study:

  • To provide a comprehensive overview of current knowledge regarding supernumerary marker chromosomes.
  • To discuss the challenges and considerations in genetic counseling for individuals with SMCs.
  • To highlight recent findings and potential future research directions in the field of SMCs.

Main Methods:

  • Literature review of recent studies on supernumerary marker chromosomes.
  • Analysis of case reports and genetic databases.
  • Synthesis of information on karyotype, phenotype, and genetic counseling.

Main Results:

  • A limited number of SMCs have established genotype-phenotype correlations.
  • The presence of an SMC can be associated with a wide spectrum of clinical outcomes.
  • Genetic counseling requires careful consideration of familial history, parental karyotypes, and phenotypic variability.

Conclusions:

  • Understanding the origin and impact of SMCs is crucial for accurate diagnosis and prognosis.
  • Further research is needed to elucidate the function and clinical relevance of various SMCs.
  • Effective genetic counseling strategies are essential for supporting affected individuals and families.