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ICD-10 code: Q92.6

Chapter: Congenital malformations, deformations and chromosomal abnormalities

What are Marker Chromosomes?

Marker chromosomes are structural chromosomal abnormalities that occur when an extra or missing piece of genetic material is present in a chromosome. These extra or missing pieces of genetic material may be too small to be seen under a microscope, or they may appear as small fragments attached to a normal chromosome. Marker chromosomes can occur in any chromosome, but they are most commonly found in the acrocentric chromosomes.

  1. Causes of Marker Chromosomes: Marker chromosomes can occur spontaneously, or they can be inherited from a parent. Inherited marker chromosomes are usually harmless, but spontaneous marker chromosomes may cause developmental delays, intellectual disabilities, or other health problems.
  2. Detection of Marker Chromosomes: Marker chromosomes can be detected by a variety of techniques, including karyotyping, fluorescent in situ hybridization (FISH), and array comparative genomic hybridization (aCGH).
  3. Effects of Marker Chromosomes: The effects of marker chromosomes depend on the specific genetic material that is present or absent. In some cases, marker chromosomes may have no effect on health or development. In other cases, marker chromosomes may cause health problems such as developmental delays, intellectual disabilities, or birth defects.

Marker chromosomes are relatively rare, occurring in about 1 in 500 to 1 in 1000 individuals. However, they are an important area of study for geneticists and researchers, as they can provide insight into the function of specific genes and the role of chromosomal abnormalities in human health and disease.

Conclusion

Marker chromosomes are a type of chromosomal abnormality that can cause health problems in some individuals. They can be inherited or occur spontaneously, and they can be detected by a variety of techniques. Although relatively rare, marker chromosomes are an important area of study for geneticists and researchers, as they can provide insight into the function of specific genes and the role of chromosomal abnormalities in human health and disease.