Diseases Diseases

Overview Of Mosaicism


Mosaicism is a condition in which cells within the same person have a different genetic makeup. In general otherwise explained as a condition where two kinds of cell populations with different genotypes are present in one organism, apparently known to be formed from a single zygote, as a result of experimental manipulation or to a problem with distribution of genetic material during mitosis. Other names given are gonadal mosaicism and chromosomal mosaicism. Such conditions can cause problems with any cell in the body; mosaicism alters the genetics that result in a confused cell that can lead to altered functions of these cells thus causing a diseased state of life. The blood cells, egg and sperms (genetic cells), skin cells and other organ cells are affected.


Mosaicism is a pattern that is abnormal and occurs during the developmental stage of life. It is an error of cell division, chromosomal transfer and mutations in genes. Mosaicism results in an appearance and traits that are not normal. Down syndrome, Klinefelter syndrome or turner syndrome are the most commonly occurring examples of mosaicism. A missing chromosome, an extra chromosome, a deleted gene, an altered protein or doubled sex determining chromosome is the basis of etiology of mosaicism. The other name for mosaicism is aneuploidy.

Examples, Diagnosis and Treatment


A funny fact about mosaicism is its relationship to a writers role in making some one superhero. Different colored eyes in the same person is a good example. Other mosaicisms include ambiguous genitalia, improper sexual traits, cranial-facial developmental abnormalities and altered skin cells. Mental retardation is a sure sign of something gone wrong in genetics. Cancer occurrence is also seen with mosaicism. Stunted growth and developmental issues are a couple other dreaded examples.

Starting with diagnostic; the mosaicism is diagnosed by prenatal analysis, blood sampling, DNA profiling, skin biopsy, pre-implantation diagnosis. It can be meiotic and mitotic. Micro array analysis is widely accepted. Tests will determine the severity and prognostic value of mosaicism. Treatment will depend on the genetic disease and mosaicism relationship. Sometimes due to altered morphology of cells, the treatment can be less intense as compared to normal cells. This is ironic but true with mosaicism, that it can be helpful to adapt to a certain condition. For example, an altered sated of immunity related cells can cause strong immune system development hence better fight infection and more protective to body than normal individuals.


Prognosis is dependent on the system involved and affected by mosaicism. The heart and brain are vital organs and their damage can be fatal. Skin problems whereas can be treated. Intestinal and other milder problem need life time supportive treatment but are compatible to life. Several mosaicism examples don’t require any treatments, like different colored eyes. Complications are dependent on involvement of the system and damage produced. At this time there is no way to avoid mosaicism and several syndromes have a poor prognosis. A lot of work is being done in this field and building up hope is an important factor to hold on to!

By Ali Javed, published at 02/13/2012
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