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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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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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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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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

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Are there any races that are genetically linked to downs syndrome?

No: Down sydrome occurs in all races and all ethnic groups at about the same rate. It is probably impossible to truly compare occurence rates in various groups because of the many inter-racial or inter-ethnic families in america. A study done about 20 years ago reported that hispanic women had a slightly higher rate of Down syndrome babies, but I am not sure how valid those study results are. ...Read more

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What's downs syndrome?

What's downs syndrome?

Downs syndrome: Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so developmental problems range from moderate to serious. ...Read more

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Why do downs syndrome kids have trouble eating?

Why do downs syndrome kids have trouble eating?

Eating: Size of mouth and oral cavity usually crowded by size of the toungue..

Have your child seen by your pediatrician for appropriate physical examination and reccs and referrals. ...Read more

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Could downs syndrome be a part of asd?

Could downs syndrome be a part of asd?

Please be specific: When asking questions on the site please avoid using initials or labels that may have several interpretations. ASD could relate to a heart defect or autistic spectrum disorder as an example & the answer would differ significantly.Though ds patients can have the heart defect, autism spectrum label would be considered inappropriate for a ds patient even though some of the symptom features overlap. ...Read more

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Do you think an adult could have mosaic down syndrome?

Do you think an adult could have mosaic down syndrome?

Accounts for 1% DS: Mosaicism is encountered in ds patients & I have followed one in the past. By definition, some tissues are composed of cells with normal information & other tissues have the abnormal, but the mix could vary greatly in the percentage of either. Functional outcome depends on that blend & whether the abnormally derived tissues compose critical structures like brain, blood, reproductive organs, etc. ...Read more

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Are there ways to prevent having a child with downs syndrome?

Are there ways to prevent having a child with downs syndrome?

Yes: Most often, down's syndrome, or trisomy 21, occurs in women over the age of 35 and increases with age. For people at risk, there are definitive diagnostic tests (cvs and amniocentesis) that can confirm or rule out a chromosomal abnormality. Also, most states offer comprehensive screening tests that inform patients whether they are at increased or decreased risk of carrying a down's syndrome baby. ...Read more

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Why do people with downs syndrome have exceptionally long tongues?

Why do people with downs syndrome have exceptionally long tongues?

Physical Trait: People with Down Syndrome have oversize tongue(Macroglossia)
It is a physical trait that is there because of Down's Syndrome ...Read more

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How often do babies with downs syndrome also have problems with vsd?

How often do babies with downs syndrome also have problems with vsd?

50%: About half of babies with Down syndrome will have congenital heart disease. The majority will have atrioventricular septal defect, aka av canal or endocardial cushion defect. ...Read more

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How does blood determines how high or low risk you are of having downs syndrome baby?

How does blood determines how high or low risk you are of having downs syndrome baby?

They r getting bette: at finding the baby's cells in the blood of the mother. With that, they can see if the baby has abnormal chromosomes and if the baby has Down's. ...Read more

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What to do if I have downs syndrome. how do I get my friends to stop calling me names?

Get new friends: Sorry to hear that your friends and truly NOT your friends and if they can not except you for who YOU are then you need to find others that will appreciate you for who you are. GET NEW FRIENDS. No worries ...Read more

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If there is no sign of Down syndrome in my family, what are the chances I will have a child with downs?

If there is no sign of Down syndrome in my family, what are the chances I will have a child with downs?

Getting higher: These risks are basically related to age.As you pass 40 it hits 1% and by 45=2% and after 50 as much as 5%.You must add that to the 4% baseline every pregnancy faces. There are screening tests that help yu know ahead of time that a problem is coming. ...Read more

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What are the odds of having a child with downs syndrome in the u.S., if you do all the appropriate screenings?

What are the odds of having a child with downs syndrome in the u.S., if you do all the appropriate screenings?

Age dependent: One fourth of pregnancies that are affected by downs are either stillborn or miscarried, that said, one of the greatest variables is maternal age at conception.
If you are 20 years old the risk is roughly 1 in 1600, if you are 35 the risk is about 1 in 380 and if you are 40 it is about 1 in 106. ...Read more

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Is downs syndrome an inborn error of metabolism?

Is downs syndrome an inborn error of metabolism?

Extrachromosome: Down syndrome is due to one extra copy of chromosome number 21, trisomy 21. It is not due to a single gene defect affecting metabolism of one entity. ...Read more

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What is the probability of having a child with downs syndrome?

What is the probability of having a child with downs syndrome?

Depends on mom's age: A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with Down syndrome is 1 in 400. By age 45, the risk is 1 in 35. However, most children with Down syndrome are actually born to women under age 35 because younger women have far more babies. ...Read more

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Can you explain mosaic turner syndrome?

Can you explain mosaic turner syndrome?

Timing of error: At conception , the embryo begin duplicating the chromosomes (chms) donated by egg & sperm to form the 23 chromosome pairs. If one x chm didn't make it , you will only have a turner pattern (45 chms xo) . If a normal xx pattern starts but an x is lost after several divisions the mosaic is created by having one normal 46xx & another 45xo cell lines replicating throughput the body. ...Read more

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Does an av canal defect cause downs syndrome?

Does an av canal defect cause downs syndrome?

No: Av canal does not cause down syndrome, but av canal is one of the abnormalities that make up Down syndrome (a syndrome is a group of abnormalities that appear together in affected persons). The cause of Down syndrome is the presence of an extra chromosome #21. ...Read more

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What is mosaic turner syndrome? Common symptoms?

What is mosaic turner syndrome? Common symptoms?

Partial: Turner syndrome occurs when a girl only has one x chromosome. Mosaic turner syndrome occurs when some of the cells in a girl have two x chromosomes and the rest have one x chromosome. Women with mosaic turner syndrome can have all of the same problems as women with turner syndrome, but the severity tends to be milder. Short stature, sterility, heart disease, and learning problems can all occur. ...Read more