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Related Concept Videos

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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 a...
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Related Experiment Video

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Partial tetrasomy 14 associated with multiple malformations.

Johanna Winberg1, Kristina Lagerstedt Robinson, Karin Naess

  • 1Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. johanna.winberg@ki.se

American Journal of Medical Genetics. Part A
|April 25, 2013
PubMed
Summary
This summary is machine-generated.

This study details a rare genetic condition in an 8-year-old girl with multiple malformations and intellectual disability. Researchers identified a unique marker chromosome 14 (tetrasomy 14p13q13.1), likely maternal in origin, offering new insights into chromosomal abnormalities.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Genetic disorders can manifest with complex phenotypes, impacting multiple organ systems.
  • Chromosomal abnormalities are a significant cause of congenital malformations and developmental delays.

Observation:

  • An 8-year-year-old female presented with severe intellectual disability, seizures, gastrointestinal dysfunction, and multiple malformations including cleft lip/palate, coloboma, and craniosynostosis.
  • Muscle biopsy revealed reduced activity in complex I of the mitochondrial respiratory chain.
  • Cytogenetic and molecular analyses identified a non-mosaic isodicentric marker chromosome 14, resulting in tetrasomy 14p13q13.1.

Findings:

  • The marker chromosome 14 was present in all analyzed cells and was determined to be of maternal meiotic origin.
  • This represents the first reported case of tetrasomy 14p13q13.1 in a non-mosaic form surviving beyond infancy.
  • Mitochondrial dysfunction was observed, suggesting a potential link to the chromosomal abnormality.

Implications:

  • This case expands the known spectrum of clinical presentations associated with marker chromosome 14.
  • Understanding the origin and consequences of such complex chromosomal rearrangements is crucial for genetic counseling and diagnosis.
  • Further research is needed to elucidate the relationship between mitochondrial dysfunction and this specific chromosomal tetrasomy.