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Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any type of cell, including:
- Blood cells
- Egg and sperm cells (gametes)
- Skin cells
Chromosomal mosaicism; Gonadal mosaicism
Causes, incidence, and risk factorsMosaicism is caused by an error in cell division very early in the development of the unborn baby.
Examples of mosaicism include:
- Mosaic Down syndrome
- Mosaic Klinefelter Syndrome
- Mosaic Turner Syndrome
Symptoms vary from person to person and are very difficult to predict. When a person has both normal and abnormal cells, problems may not be as severe.
Signs and testsMosaicism can be found through chromosome evaluation or microarray analysis. It is usually described as a percentage of the cells examined. Males normally have the chromosomes 46 XY and females normally have the chromosomes 46 XX.
Tests will likely need to be repeated to confirm the results, and to help determine the type and severity of the mosaicism.
TreatmentTreatment will depend on the type of genetic disease. Patients with mosaicism may need less intense treatment than those with the typical form of the disease because only some of their cells are abnormal.
Expectations (prognosis)The outlook depends on how much the mosaicism has affected the organs and tissues in the body (for example, the brain or heart). It is difficult to predict the effects of having two different cell lines in one person.
In general, patients with a high percentage of abnormal cells have the same outlook as people with the typical form of the disease (those who have all abnormal cells).
Patients with a low percentage of abnormal cells may only be mildly affected. They may not discover that they have mosaicism until they birth to a child who has the typical (non-mosaic) form of the disease.
ComplicationsComplications vary based on the type and percentage of cells affected by the genetic change.
Calling your health care providerA diagnosis of mosaicism can cause confusion and uncertainty. A genetic counselor may help you with diagnosis and testing questions.
PreventionThere is currently no known way to prevent mosaicism.
However, there are options for having a child with normal chromosomes. Discuss this information with your doctor.
ReferencesHall JG. Single-gene and chromosomal disorders. In: Goldman L, Ausiello D.Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 39.
Wiki User
∙ 13y ago
Wiki User
∙ 12y agoMosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any type of cell, including:
- Blood cells
- Egg and sperm cells (gametes)
- Skin cells
Chromosomal mosaicism; Gonadal mosaicism
Causes, incidence, and risk factorsMosaicism is caused by an error in cell division very early in the development of the unborn baby.
Examples of mosaicism include:
- Mosaic Down Syndrome
- Mosaic Klinefelter Syndrome
- Mosaic Turner Syndrome
Symptoms vary from person to person and are very difficult to predict. When a person has both normal and abnormal cells, problems may not be as severe.
Signs and testsMosaicism can be found through chromosome evaluation or microarray analysis. It is usually described as a percentage of the cells examined. Males normally have the chromosomes 46 XY and females normally have the chromosomes 46 XX.
Tests will likely need to be repeated to confirm the results, and to help determine the type and severity of the mosaicism.
TreatmentTreatment will depend on the type of genetic disease. Patients with mosaicism may need less intense treatment than those with the typical form of the disease because only some of their cells are abnormal.
Expectations (prognosis)The outlook depends on how much the mosaicism has affected the organs and tissues in the body (for example, the brain or heart). It is difficult to predict the effects of having two different cell lines in one person.
In general, patients with a high percentage of abnormal cells have the same outlook as people with the typical form of the disease (those who have all abnormal cells).
Patients with a low percentage of abnormal cells may only be mildly affected. They may not discover that they have mosaicism until they birth to a child who has the typical (non-mosaic) form of the disease.
ComplicationsComplications vary based on the type and percentage of cells affected by the genetic change.
Calling your health care providerA diagnosis of mosaicism can cause confusion and uncertainty. A genetic counselor may help you with diagnosis and testing questions.
PreventionThere is currently no known way to prevent mosaicism.
However, there are options for having a child with normal chromosomes. Discuss this information with your doctor.
ReferencesHall JG. Single-gene and chromosomal disorders. In: Goldman L, Ausiello D.Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 39. Reviewed ByReview Date: 12/01/2010
Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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What is the medical condition mosaicism?
A type of trisomy, where only some of the cells in the body have the extra chromosome.
How many chromosomes do hermaphrodites have?
True human hermaphroditism (when an individual has both ovarian and testicular tissue) is very rare - the documented karyotypes are 47XXY, 46XX/46XY, or 46XX/47XXY, and various degrees of mosaicism. This means that human hermaphrodites can have XXY sex chromosomes, or combinations where they have two genetically distinct populations of cells (chimera or mosaicism).
What has the author Richard AE Tilney-Bassett written?
Richard A.E Tilney-Bassett has written: 'Plant chimeras' -- subject(s): Plant genetics, Mosaicism
What causes turner syndrome?
Nothing 'causes' Turner Syndrome it is simply random geneticsGenetic mosaicism is most often implicated alongside nondidjunction and partial monosomy
A trait is inherited in an autosomal dominant manner If two individuals that do not have the trait mate what percentage of their offspring would be expected to have the trait?
0. Unless there is a germline mosaicism or sporadic mutation in the fertilized embryo.
What happens if nondisjunction occurs during meiosos?
If nondisjunction occurs during meiosis the result could be a wide range of mutations. Most likely it would result in mosaicism meaning there will be a mixture of affected cells and non affected cells.
Do girls with Turner syndrome go through puberty?
It is estimated that 3-8% of girls with a single X-chromosome and 12-21% of females with sex chromosome mosaicism may have normal pubertal development and spontaneous menstrual periods
What are some unique aspects of fragile X syndrome?
The phenomenon of an expanding trinucleotide repeat in successive generations is called anticipation. Another unique aspect of fragile X syndrome is that mosaicism is present in 15-20% those affected by the condition
What types of Down syndrome are there?
There are three different types of Down syndrome: Standard Trisomy 21, Translocation, and Mosaicism. Standard Trisomy 21 is when the extra chromosome 21 comes from either the egg or sperm cell. Between 90% and 95% of all Down syndrome is Standard Trisomy 21.
Are there different types of Down syndrome?
There are three different types of Down syndrome: Standard Trisomy 21, Translocation, and Mosaicism. Standard Trisomy 21 is when the extra chromosome 21 comes from either the egg or sperm cell. Between 90% and 95% of all Down syndrome is Standard Trisomy 21.
What are the different types of Down syndrome?
There are three different types of Down syndrome: Standard Trisomy 21, Translocation, and Mosaicism. Standard Trisomy 21 is when the extra chromosome 21 comes from either the egg or sperm cell. Between 90% and 95% of all Down syndrome is Standard Trisomy 21.
Is non disjunction the only cause of down syndrome?
No.There are three different types of Down syndrome: Standard Trisomy 21, Translocation, and Mosaicism. Standard Trisomy 21 is when the extra chromosome 21 comes from either the egg or sperm cell. Between 90% and 95% of all Down syndrome is Standard Trisomy 21.
