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Related Concept Videos

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...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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.
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.
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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...

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Related Experiment Video

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FISH for Pre-implantation Genetic Diagnosis
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Homozygosity for inversion (2)(p12q14)

Z Gelman-Kohan1, J Rosensaft, R N Ben-Cohen

  • 1Clinical Genetics Unit, Kaplan Hospital, Rehovot, Israel.

Human Genetics
|October 1, 1993
PubMed
Summary

This study reports the first known cases of homozygosity for the inv2(p12q14) chromosomal inversion in two healthy siblings. Researchers seek information on any other individuals with this genetic condition.

Area of Science:

  • Human Genetics
  • Cytogenetics
  • Molecular Biology

Background:

  • Chromosomal inversions are structural variations that can impact gene regulation and individual health.
  • Homozygosity for inversions is typically rare and may be associated with developmental issues.

Purpose of the Study:

  • To report the first documented cases of healthy individuals who are homozygous for the inv2(p12q14) inversion.
  • To gather information on other potential cases of inv2(p12q14) homozygosity.

Main Methods:

  • Case report of two healthy siblings.
  • Karyotyping or other cytogenetic analysis to confirm the inversion.
  • Genetic counseling and family history assessment.

Main Results:

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  • Two healthy adult siblings were identified as homozygotes for the inv2(p12q14) inversion.
  • No apparent adverse health effects were observed in the homozygous individuals.

Conclusions:

  • The inv2(p12q14) inversion can be present in a homozygous state in healthy individuals.
  • Further investigation and case reporting are needed to understand the full implications of this inversion.