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Topic: Mosaicism


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In the News (Wed 15 Feb 12)

  
  - Northwestern Memorial Hospital - Chicago
When mosaicism results from mutation during embryonic or fetal growth, one part of the body may have signs or symptoms of a genetic disease, while another part of the body may be normal.
For gonadal mosaicism that could cause a genetic disease in the offspring (such as a single gene disorder), the appropriate tests are the same as if the genetic change was present in 100% of the cells.
One complication of gonadal mosaicism is that it becomes very difficult to give specific statistical probabilities of a child being affected by a genetic disease because the percentage of affected sex cells is unknown.
www.nmh.org /nmh/adam/adamencyclopedia/HIEArticles/001317.htm   (1031 words)

  
 Lifespan's A - Z Health Information Library - Mosaicism   (Site not responding. Last check: 2007-10-11)
Mosaicism refers to a condition where an individual has two or more cell populations that differ in genetic makeup.
Mosaicism occurs as a result of an error in cell division very early in fetal development.
Patients with mosaicism may require less intense treatment than those with the typical form of the disease (with 100% of their cells affected), because they may be more mildly affected (only some of their cells are abnormal).
www.lifespan.org /adam/healthillustratedencyclopedia/1/001317.html   (543 words)

  
 What is Mosaicism? - Rainbows Down Under
Mosaicism of partial trisomies is of course rarer still.
Mosaicism is usually detected when testing for a suspected chromosomal anomaly is done.
Not enough cells looked at to determine a low level of mosaicism, that is a small number of "normal" cells or a small number of cells that have a chromosome anomaly.
members.optushome.com.au /karens/t6.htm   (2467 words)

  
 MoSt GeNe/Genetic Drift/Nontraditional Inheritance/Intro & Mosaicism
Mosaicism is the term used to describe the contribution of two or more genotypes to the structure and function (i.e.
Hence, it is safe to say that all people are mosaic, with the effects of this mosaicism dependent upon the number of cells involved, the specific genes affected, and locations of the mutant cells.
There are now well documented cases of gonadal mosaicism for dominant mutations in what would otherwise have been considered as recessively inherited cases of skeletal dysplasias, connective tissue disorders, and a few chromosomal aberrations.
www.mostgene.org /gd/gdvol10a.htm   (1257 words)

  
 What is mosaicism?   (Site not responding. Last check: 2007-10-11)
Chromosomal mosaicism is when different cells within an individual, who has developed from a single fertilized egg, have a different chromosomal makeup.
The most common kind of chromosomal mosaicism found at prenatal diagnosis involves trisomy, where the abnormal cells contain 47 chromosomes.
Mosaicism may exist for all kinds of chromosome abnormalities (monosomy, triploidy, structural changes, etc).
www.medgen.ubc.ca /wrobinson/mosaic/mosaicism.htm   (793 words)

  
 Abstract: a study of chromosomal mosaicism in Down syndrome
Recent data suggest that chromosome mosaicism is a possible mechanism for intrauterine and postnatal survival in cases of trisomy 18 and Turner syndrome (45X).
Mosaicism was studied by interphase fluorescence in-situ hybridization (FISH), using a specific probe for chromosome 21 (21q22.13-21q22.2) in 78 cases suspected of DS.
The conclusion here is that while mosaicism is more common in people with Down syndrome than previously thought, it is not common enough to be the reason for survival of a large percentage of fetuses with Down syndrome.
www.ds-health.com /abst/a0307.htm   (762 words)

  
 Mosaicism - Medical Genetics - Health Library - Children's Hospital of The King's Daughters
The term mosaicism is used to describe the presence of more than one type of cell in a person.
For example, a person may have some of the cells in their body with 46 chromosomes, while other cells in their body have 47 chromosomes.
Since the percentage of cells with an extra chromosome is 15 out of 20, the baby would be said to have a level of mosaicism at 75 percent.
www.chkd.org /Genetics/mosaic.asp   (495 words)

  
 WiSSPers, November 1997, page 2
Somatic mosaicism, mosaicism not affecting the germ cells, is exceedingly common — simple nevi or moles of the skin probably arise because of mutation resulting in a different genetic makeup of the cell that gives rise to these moles.
Different types of confined placental mosaicism are defined by whether the abnormality is apparent on direct CVS preparations (that is, those done without initial lengthy culture in the lab), on cultured cells from CVS, or both (type I, II and III, respectively).
Kalousek DK, Barrett I: Confined placental mosaicism and stillbirth.
www.wisc.edu /wissp/wisspers/nov97002.htm   (1910 words)

  
 Mosaic (genetics) - Wikipedia, the free encyclopedia
In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder.
Mosaicism may result from a mutation during development which is propagated to only a subset of the adult cells.
Although most forms of trisomy are due to problems in meiosis and affect all cells of the organism, there are cases where the trisomy only occurs in a selection of the cells.
en.wikipedia.org /wiki/Mosaicism   (943 words)

  
 Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism -- Yong et al. 40 (3): 175 -- Journal of ...
Implications for the prenatal diagnosis of trisomy 16 mosaicism
Implications for the pathogenesis of trisomy 16 mosaicism
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.
jmg.bmj.com /cgi/content/full/40/3/175   (5056 words)

  
 Mosaic Down Syndrome - My Child Has - Children's Hospital Boston
Mosaicism, used to describe the presence of more than one type of cell in a person, is usually described as a percentage.
In addition, there have been studies looking at whether the percentage of mosaicism can predict the clinical outcome, such as the IQ of the individual or whether there will be a heart defect.
These studies show that the percentage of mosaicism is not an accurate predictor of outcome.
www.childrenshospital.org /az/Site1311/mainpageS1311P0.html   (394 words)

  
 MDA / Quest Vol 8 No 1 / Simply Stated . . . Germ Line Mosaicism   (Site not responding. Last check: 2007-10-11)
One area that causes frequent misunderstanding is the phenomenon of germ line mosaicism.
The genetic counselor was telling W.T. that she may have germ line mosaicism with regard to her dystrophin genes.
The condition of having some germ cells affected and some not is called germ line or germinal mosaicism, derived from the idea of a mosaic pattern.
www.mdausa.org /publications/Quest/q81ss.aspx   (851 words)

  
 Mosaicism - Susan's Place Transgender Wiki
Although the two can have some common symptoms, mosaicism is distinctly different from chimerism; in the latter, two or more cell lines of different origin are present in an organism and are not simply the result of mutation within a single cell line.
Sometimes intersex conditions can be caused by mosaicism - where some cells in the body have XX and others XY chromosomes.
This is when a part of the gonadal cells of an organism have different genotype than the rest of the cells, usually because of a mutation that occurred in an early stem cell that gave rise to a part or all of the gonadal tissue.
wiki.susans.org /index.php?title=Mosaicism   (425 words)

  
 VHL Mosaicism
Mosaicism may explain why a DNA mutation can not be detected in a person who has VHL tumors and cysts, or why unaffected parents may have one or more affected children.
Estimates about the frequency of mosaicism in specific autosomal dominant conditions are based on observation of disease occurrence in families and by laboratory analysis of available tissues.
We currently estimate the incidence of mosaicism in VHL to be approximately 5%.
www.vhl.org /newsletter/vhl2000/00bamosa.htm   (2959 words)

  
 Mosaicism, Tortie Tomcats and Genetically Impossible Kittens
Somatic mosaicism and chimerism aren't restricted to red or red-and-white cats; it's just that we are more geared up to looking for elusive fertile tortoiseshell males and tend to overlook the fact that some apparently normal tortoiseshell females may be due to genetic abnormalities.
Mosaicism and X chromosome inactivation means that female identical twins never carry exactly the same genes.
Mosaicism (the visual effect of a multicoloured coat) can take many forms, from normal female tortoiseshells, through to individuals that are actually two fused individuals.
www.messybeast.com /mosaicism.htm   (11032 words)

  
 Medical Dictionary: Mosaicism - CureResearch.com
everyone's T-cells have varying DNA), but mosaicism is only of clinical interest when one set of cells has a particular genetic disease or chromosome disease, but the other set of cells has normal DNA.
Mosaicism (condition): Sometimes even an autosomal dominant disease can arise surprisingly when neither parent has the disease.
This is a condition where one parent's gamete cells have the genetic defect, whereas their normal cells do not.
www.cureresearch.com /medical/mosaicism.htm   (353 words)

  
 Mosaicism 2: Gender Anomalies
Tortie tomcats are discussed in Mosaicism 1: Tortie Tomcats and Genetically Impossible Kittens.
Somatic mosaicism the presence of genetically distinct populations of somatic cells in a given organism due to DNA mutations/damage or chromosome abnormalities.
Germ-line mosaicism a particular mutation early in the development of an embryo means that, later in life, some of the egg or sperm cells will carry the mutated gene which can be passed on to offspring.
www.messybeast.com /mosaicism2.htm   (1788 words)

  
 TheFetus.net - 45,X-47,XYY mosaicism-Robert Roger Lebel, MD, Jeannette N. Israel, MD, Radhika Chawla, MD
Mosaicism 45,X/47,XYY is a rare prenatal and postnatal finding.
We discuss the etiology of the mosaicism and of cell line inequality.
We observed 45,X/47,XYY mosaicism in a miscarried fetus.
www.thefetus.net /page.php?id=6   (747 words)

  
 Trisomy 21 mosaicism   (Site not responding. Last check: 2007-10-11)
It is estimated that 80% of all trisomy 21 pregnancies conceived end as spontaneous abortions or as stillbirths; approximately 2% of spontaneous abortions and 1% of stillbirths will have trisomy 21.
Mosaicism for trisomy 21 can occur in one of the two parents in a small percentage of cases.
Such couples would be expected to have an increased risk of having additional trisomy 21 offspring, although families with recurrent trisomy 21 are rare.
www.medgen.ubc.ca /wrobinson/mosaic/trisomy21.htm   (823 words)

  
 Confined placental mosaicism and intrauterine fetal growth -- Lestou and Kalousek 79 (3): 223 -- Archives of Disease in ...   (Site not responding. Last check: 2007-10-11)
Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth restriction association with confined placental mosaicism.
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in cytotrophoblast, and increased risk of fetal intrauterine growth restriction.
Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth retardation, hypospadias, and oligohydramnios.
fn.bmj.com /cgi/content/full/79/3/F223   (2707 words)

  
 Mosaic Down Syndrome
In Down syndrome, mosaicism means that some cells of the body have trisomy 21, and some have the typical number of chromosomes.
When mosaicism is suspected but not confirmed through the blood test, other cell types may be tested: skin and bone marrow are most commonly the next cells checked.
When 28 of these children with mosaicism were matched up with 28 children with typical Down syndrome for age and gender, the children with mosaicism reached certain motor milestones earlier than children with typical DS, such as crawling and walking alone.
www.ds-health.com /mosaic.htm   (729 words)

  
 Piecing together the puzzle of cutaneous mosaicism -- Paller 114 (10): 1407 -- Journal of Clinical Investigation
Epidermal nevi are examples of cutaneous mosaicism in which the localized thickening of the epidermis is patterned along the lines of Blaschko.
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.
Smith, F.J., Morley, S.M., and McLean, W.H. Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex.
www.jci.org /cgi/content/full/114/10/1407   (1534 words)

  
 Mosaicism and Chimerism   (Site not responding. Last check: 2007-10-11)
In most but not all cases, the mosaicism can be detected in cells from all tissues.
However, understanding X chromosome inactivation and mosaicism is of great importance in all species for understanding the pathophysiology of X-linked genetic diseases.
In mythology, a chimera is a fire-breathing monster composed with a lion's head, a goat's body and a serpent's tail.
arbl.cvmbs.colostate.edu /hbooks/genetics/medgen/chromo/mosaics.html   (1233 words)

  
 mosaicism involving "sex" chromosomes | Intersex Society of North America
An example is when a person is said to have a 45,X/46,XX karyotype; that means he or she has 46,X in some cells, and 46,XX in other cells.
Mosaicism happens because sometimes cells divide incorrectly early in the life of an embryo.
Mosaicism also occurs in milder forms of Klinefelter Syndrome called 46/47 XY/XXY mosaic.
www.isna.org /faq/conditions/mosaicism   (490 words)

  
 X & Y mosaicism (via CobWeb/3.1 planetlab1.netlab.uky.edu)   (Site not responding. Last check: 2007-10-11)
For 47, XXX mosaicism, 2/4 cases were confirmed in fetal tissues.
In these cases the percentage of abnormal cells measured on CVS direct studies were 55% and 94%.
In one mosaicism was confirmed, in the other trisomic cells did not appear to be in the fetus.
www.medgen.ubc.ca.cob-web.org:8888 /wrobinson/mosaic/chrom_xy.htm   (221 words)

  
 Medical Dictionary: Mosaicism - WrongDiagnosis.com
Mosaicism (medical condition): Sometimes even an autosomal dominant disease can arise surprisingly when neither parent has the disease.
Mosaicism: Another name for Germinal mosaicism (or close medical condition association).
Mosaicism: Mosaicism is listed as a type of (or associated with) the following medical conditions in our database: Genetic Disease
www.wrongdiagnosis.com /medical/mosaicism.htm   (267 words)

  
 Germline and somatic mosaicism in achondroplasia -- HENDERSON et al. 37 (12): 956 -- Journal of Medical Genetics
Germline and somatic mosaicism are both reasonably common features of genetic disorders.
This is the first confirmed report of germline and somatic mosaicism for an achondroplasia mutation.
Rimoin DL, McKusick VA. Somatic mosaicism in an achondroplastic dwarf.
jmg.bmj.com /cgi/content/full/37/12/956   (1311 words)

  
 Osteogenesis Imperfecta Foundation: Genetics
In most cases, when a family with no history of OI has a child with OI, they are not at any greater risk than the general population for having a second child with OI.
In studies of families into which infants with OI Type II (the perinatal lethal form) were born, it was found that most of the babies had a new dominant mutation in a collagen gene.
Studies suggested that the mutation, instead of occurring in an individual sperm or egg, occurred in a percentage of the cells that give rise to a parent's multiple sperm or eggs.
www.oif.org /site/PageServer?pagename=Genetics   (1681 words)

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