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Related Concept Videos

Overview of Transposition and Recombination02:13

Overview of Transposition and Recombination

Transposons make up a significant part of genomes of various organisms. Therefore, it is believed that transposition played a major evolutionary role in speciation by changing genome sizes and modifying gene expression patterns. For example, in bacteria, transposition can lead to conferring antibiotic resistance. Movement of transposable elements within the genetic pool of pathogenic bacteria can aid in transfer of antibiotic-resistant genetic elements. In eukaryotes, transposons can carry out...
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...
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...
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
Conservative Site-specific Recombination and Phase Variation02:53

Conservative Site-specific Recombination and Phase Variation

Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
Crossing Over01:30

Crossing Over

Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I, duplicated...

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Updated: Jun 22, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

"Understanding Adam" multiple reciprocal translocations: complex case presentation.

Carie E Linder1, Xianglan Lu, Young Mi Kim

  • 1Neonatal Intensive Care Unit, Integris Baptist Medical Center, Oklahoma City, Oklahoma, USA. carie.linder@integrishealth.com

The Journal of Perinatal & Neonatal Nursing
|May 29, 2009
PubMed
Summary
This summary is machine-generated.

A newborn with complex chromosomal rearrangement involving five chromosomes presented with multiple dysmorphies. This case review links specific malformations to chromosomal variations, aiding understanding of developmental anomalies.

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Chromosome Preparation From Cultured Cells
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Last Updated: Jun 22, 2026

FISH for Pre-implantation Genetic Diagnosis
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Quantitation and Analysis of the Formation of HO-Endonuclease Stimulated Chromosomal Translocations by Single-Strand Annealing in Saccharomyces cerevisiae
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Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Chromosomal abnormalities are a significant cause of congenital malformations.
  • Painted chromosomal analysis is a key diagnostic tool for identifying complex rearrangements.
  • Understanding genotype-phenotype correlations is crucial for genetic counseling and clinical management.

Observation:

  • A newborn presented with severe dysmorphology including cutis aplasia, ocular malformations, cleft lip/palate, and hydrocephaly.
  • Painted chromosomal analysis revealed a complex, multi-way balanced translocation involving chromosomes 3, 4, 6, 8, and 9.
  • This specific chromosomal rearrangement was retrospectively correlated with the observed congenital anomalies.

Findings:

  • The case demonstrates a rare balanced translocation affecting multiple chromosomes.
  • Each observed dysmorphic feature was traced back to specific chromosomal segments involved in the translocation.
  • Pathophysiological links between the chromosomal variation and embryological development were explored.

Implications:

  • This case highlights the intricate relationship between chromosomal aberrations and complex congenital disorders.
  • Visualizing chromosomal translocations enhances the understanding of their impact on embryonic development.
  • Further research into such complex rearrangements can improve diagnostic accuracy and patient outcomes.