Isochromosome meaning

An isochromosome is a type of chromosome in which one arm is duplicated and the other arm is missing, resulting in a structure that is essentially a mirror image of itself, with both arms being genetically identical.


Isochromosome definitions

Word backwards emosomorhcosi
Part of speech The word "isochromosome" is a noun. It refers to a type of chromosome that has two identical arms, resulting from the duplication of a chromosome and the failure of one of the chromatids to separate during cell division.
Syllabic division The syllable separation of the word "isochromosome" is: i-so-chro-mo-some.
Plural The plural of the word "isochromosome" is "isochromosomes."
Total letters 13
Vogais (3) i,o,e
Consonants (5) s,c,h,r,m

Understanding Isochromosomes: Definition and Characteristics

An isochromosome is a type of chromosome that results from a structural abnormality in which one arm of the chromosome is lost while the other arm is duplicated. This leads to a chromosome that has identical arms, hence the prefix "iso," meaning equal. Isochromosomes can arise during cell division either through unequal crossing over or through a failure in the separation of the chromatids during meiosis or mitosis.

Formation of Isochromosomes

The formation of an isochromosome typically begins at the centromere, where the chromosome divides horizontally instead of vertically. This unusual division results in two identical arms attached to the centromere. As a consequence, one of the arms is lost, while the other arm is duplicated, leading to a chromosome structural defect. The presence of isochromosomes can significantly affect cellular function and lead to various genetic disorders.

Isochromosome and Genetic Disorders

Isochromosomes are often associated with several congenital abnormalities and cancer. The most well-known type is the isochromosome of the long arm of chromosome 21, which is linked to Down syndrome. Patients with this condition can exhibit cognitive impairments and other physical traits related to the genetic changes caused by the isochromosome. Additionally, various malignancies such as certain types of leukemia show the presence of isochromosomes, which can lead to distinct oncogenic pathways.

Diagnosis and Detection of Isochromosomes

Detecting isochromosomes typically involves advanced cytogenetic techniques. Karyotyping, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH) are common methods for identifying chromosomal abnormalities, including isochromosomes. These techniques allow for the visualization of chromosomal structure and can help pinpoint the exact nature of the chromosomal defect.

Clinical Implications of Isochromosomes

The clinical implications of isochromosomes are profound. Individuals with these chromosomal abnormalities often require specialized medical care geared toward the specific genetic disorders they may carry. Genetic counseling plays a critical role in supporting patients and families in understanding the impacts of isochromosomes on health, development, and reproduction. Moreover, ongoing research into the mechanisms of isochromosome formation promises to advance our understanding of genetic diseases.

Conclusion: The Significance of Understanding Isochromosomes

In summary, isochromosomes represent a significant aspect of chromosomal structure and can have wide-ranging effects on human health. By understanding the nature and implications of isochromosomes, healthcare providers and researchers can better address the challenges posed by genetic disorders. Further research is essential to unravel the complexities of these chromosomal abnormalities, potentially leading to more effective treatments and interventions for affected individuals.


Isochromosome Examples

  1. The discovery of an isochromosome in the patient’s karyotype revealed significant genetic anomalies.
  2. Researchers are studying the role of isochromosomes in the development of certain cancers.
  3. An isochromosome can be identified by its symmetrical structure during genetic analysis.
  4. The presence of isochromosomes has been linked to chromosomal disorders such as Turner syndrome.
  5. In cytogenetics, the formation of isochromosomes is a critical focus for understanding genetic diseases.
  6. Histological techniques are essential for detecting isochromosomes during tumor characterization.
  7. Isochromosomes represent a unique alteration in chromosome morphology, impacting gene expression.
  8. Through advanced imaging, scientists are able to visualize isochromosomes in living cells.
  9. Understanding how isochromosomes arise can provide insights into the mechanisms of mitotic errors.
  10. Case studies have shown that isochromosomes can play a pivotal role in the prognosis of certain genetic conditions.


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  • Updated 27/07/2024 - 09:48:18