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Doctor insights on: Mosaic Downs Syndrome

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Does the panorama blood test during pregnancy test for mosaic downs syndrome as well?

Does the panorama blood test during pregnancy test for mosaic downs syndrome as well?

See answer and link: This test may not be able to identify abnormalities or may report a positive result in the presence of mosaicism (which may be confined to the placenta). http://www.questdiagnostics.com/testcenter/testguide.action?dc=TH_Panorama_Prenatal_Test ...Read more

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Anyone familiar with revertant mosaicism and epidermolysis bullosa?

Anyone familiar with revertant mosaicism and epidermolysis bullosa?

Revertant Mosaiciam: Revertant mosaicism or natural gene therapy is the somatic reversion of an inherited mutation, thereby partially or completely restoring the phenotype. In eb this phenomenon is visible as clinically healthy patches, surrounded by affected skin. The underlying mechanism of reversion has been investigated in a cohort of nine patients. ...Read more

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My daughter has been diagnosed with ? Mosaicism of the skin ? Segmental vitiligo , how do we differentiate it ?

My daughter has been diagnosed with ? Mosaicism of the skin ? Segmental vitiligo , how do we differentiate it ?

Mosaicism in a girl : Means she developed from a single fertilized egg but has 2 or > sets of genes from either crossover during mitosis, mutation of a gene or chromosome or inactivation of an x chr. Clinical genetic evaluation , chromosomal microarray ; skin biopsy help diagnose. Hyper- or hypo- pigmented areas are usually streaks that follow lines of blashko, invisible in most of us, but can be whorls/swirls. ...Read more

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Mosaicism, missing "y" in 15% of cells on amniocentesis at 15wks' & postnatal test. Male, now 16. What does this mean?Worried grandma.

Mosaicism, missing "y" in 15% of cells on amniocentesis at 15wks' & postnatal test. Male, now 16.  What does this mean?Worried grandma.

Sounds fine to me: I understand that junior was found to have 15% of cells missing y chromosomes and is now grown into a 16 year old teen with a couple of developmental issues that many other kids share. From my reading, there's no particular syndrome that you're likely to see with this constellation of findings, and everybody's best served by regarding junior as exactly what he is -- a wonderful boy. ...Read more

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This analysis excludes mosaicism greater than 14% at a 95% confidence limit. Does this mean they didn't test for turners in my amino?

This analysis excludes mosaicism greater than 14% at a 95% confidence limit.  Does this mean they didn't test for turners in my amino?

Mosaicism : Mosaicism means the fetus having more than one type of cell in its body and that the test is 95% certain that if present, the second cell type constitutes less than 14% of the total cells, which is a reasonable approximation that all cells in the fetus are of one type genetically, which is either 44 plus XX in case of female fetus and 44 plus XY in case of male fetus. Turner's means 44 plus X only ...Read more

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Can a second set of wisdom teeth be a sign of mosaicism?

Can a second set of wisdom teeth be a sign of mosaicism?

Probalbly not: 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, skin cells and egg and sperm cells. A second set of wisdom teeth by itself would not mean this condition exists. ...Read more

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I have trisomy 8 mosaicism without any physical or mental difficulties. I have low platelets and neutrophil levels. Is rai suitable for me hyperthyroi?

I have trisomy 8 mosaicism without any physical or mental difficulties. I have low platelets and neutrophil levels. Is rai suitable for me hyperthyroi?

Likely: You should always discuss the risk and benefits of rai treatment with doctor but it is an approved treatment for hyperthyroidism and should not affect the platelet and white blood cell count. ...Read more

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Is there a type of mosaic Down syndrome that doesn't require the mutation to come from either parent to have a downs child?

Is there a type of mosaic Down syndrome that doesn't require the mutation to come from either parent to have a downs child?

Yes: A mosaic down syndrome child can come from a normal egg and normal sperm, produced by normal parents. The fertilized egg would start out normal with 46 chromosomes. It can divide into 2 normal cells, which themselves divide again. If on one of the early divisions, one cell ends up with an extra #21 chromosome and survives to continue dividing, the child will be mosaic with some trisomy 21 cells. ...Read more

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What are my chances of having downs syndrome if I am a 37yo female?

What are my chances of having downs syndrome if I am a 37yo female?

1:225: It's 1:150 in the 2nd trimester and 1:225 at birth - see http://www.Ds-health.Com/risk.Htm. ...Read more