Mosaic trisomy 8

Causes

What happens because of the chromosomal change in mosaic trisomy 8?

It is unclear exactly why having an extra chromosome can cause the symptoms associated with mosaic trisomy 8. It is thought that the extra set of instructions interferes with development. The word "mosaic" means that only some cells have the extra chromosome and others do not. Mosaic trisomy 8 can causes a range of symptoms, including specific facial features, cleft palate, intellectual disabilities and changes in the brain. Everyone with mosaic trisomy 8 can have a different set of symptoms because they have a different number of trisomic cells, and they may be in different parts of the body.

Speak to a genetic counselor or a medical geneticist to learn more about mosaic trisomy 8.

References
  • http://ghr.nlm.nih.gov/chromosome/8
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Does anything make mosaic trisomy 8 worse?

Is this a predisposition or a cause for mosaic trisomy 8?

What gene change or mutations is seen in mosaic trisomy 8?

Does anything make mosaic trisomy 8 worse?

Typically, the more cells that have trisomy 8 (the extra copy of chromosome 8) in the body, the more severe the medical problems will be expected to be. Otherwise, there is nothing that makes the symptoms of mosaic trisomy 8 worse.

Speak to a medical geneticist to learn more about the symptoms of mosaic trisomy 8.

References
  • https://rarediseases.info.nih.gov/gard/5359/mosaic-trisomy-8/resources/9
Is this a predisposition or a cause for mosaic trisomy 8?

Having an extra copy of chromosome 8 in some, but not all, cells of the body causes mosaic trisomy 8. No other factor is necessary in order to show the symptoms.

References
  • https://rarediseases.info.nih.gov/gard/5359/mosaic-trisomy-8/resources/1
What gene change or mutations is seen in mosaic trisomy 8?

We each have 46 chromosomes that are separated into 23 pairs. One copy in each pair comes from our mother and one copy in each pair comes from our father. The first 22 pairs of chromosomes are numbered 1 through 22 and are arranged from the largest chromosomes to the smallest chromosomes. The last pair of chromosomes determines our gender. Women have two X chromosomes while men have one X chromosome and one Y chromosome. In mosaic trisomy 8, some of the cells of the body have an extra chromosome 8, which means that there are 47 chromosomes in those cells and other cells in the body have the typical 46 chromosomes. The cells with the extra chromosome 8 are called "trisomic" as they have three copies of the 8th chromosome. This extra chromosome in some of the cells causes the symptoms of mosaic trisomy 8.

Speak to a genetic counselor or a medical geneticist to learn more about the cause of mosaic trisomy 8.

References
  • https://rarediseases.info.nih.gov/gard/5359/mosaic-trisomy-8/resources/1

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