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Related Concept Videos

Cohesins02:20

Cohesins

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Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
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Meiosis I01:49

Meiosis I

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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...
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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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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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Nondisjunction01:29

Nondisjunction

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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Related Experiment Video

Updated: Mar 15, 2026

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
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Familial Cleidocranial Dysplasia.

Radhika Verma1, M K Jindal2, Sandhya Maheshwari3

  • 1Tutor, Department of Pedodontics, Faculty of Medicine, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.

International Journal of Clinical Pediatric Dentistry
|September 15, 2016
PubMed
Summary

Cleidocranial dysplasia, a rare autosomal dominant disorder, presents with variable skeletal and dental issues. This case report details a mother and son exhibiting classic symptoms, highlighting the condition's familial inheritance.

Keywords:
Cleidocranial dysplasiaautosomal dominantdelayed eruptionpartial anodontia.retained primaryskeletal dysplasia

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Area of Science:

  • Genetics
  • Skeletal Dysplasias
  • Rare Diseases

Background:

  • Cleidocranial dysplasia (CCD), also known as mutational dysostosis, is an autosomal dominant skeletal disorder.
  • Characterized by defective ossification of the clavicles and skull, CCD exhibits significant phenotypic variability.
  • Currently, no definitive treatment exists for this rare condition.

Observation:

  • A case report involving a mother and son presenting with CCD.
  • Both individuals displayed classical clinical manifestations of the disorder.
  • The report emphasizes the hereditary nature and variable expressivity of CCD within a family.

Findings:

  • Autosomal dominant inheritance pattern confirmed in the presented family.
  • Classical features of cleidocranial dysplasia observed in both affected mother and son.
  • Wide spectrum of disease severity illustrated, even within a single family unit.

Implications:

  • Highlights the importance of genetic counseling for families with cleidocranial dysplasia.
  • Underscores the need for further research into potential therapeutic targets for CCD.
  • Case reports like this contribute valuable data on the natural history and presentation of rare skeletal disorders.