May 12 2008
Mosaic Down Syndrome
Mosaic Down Syndrome
Get the Facts
from International Mosaic Down Syndrome Association
What is mosaic Down syndrome?
- Mosaic Down syndrome happens when a person has a percentage of cells with an extra 21st chromosome and the remaining cells are unaffected. This type of Down syndrome accounts for about 2%-4% of the cases of Down syndrome.
- Mosaic translocation Down syndrome occurs when a person has a percentage of translocation Down syndrome cells and the remaining cells are unaffected. Translocation happens when a piece of chromosome 21 becomes attached to another chromosome, during cell division. Translocation can be inherited by parents, but this is not always the case. This type of Down syndrome has not yet been studied, so we are unable to give an accurate number of occurrences.
- According to research approximately 100-200 babies are born each year in America with mosaic Down syndrome. Due to lack of extensive international research, we are unable to confirm numbers for other countries but can assume that these numbers are similar in each country.
- Because people with MDS often do not present the strong physical characteristics or delays present in Down syndrome, many live their lives without ever knowing they have this condition. In 2006, approximately 14,000 people in America have the diagnosis of MDS.
What did I do to cause my child to have MDS?
- Nothing at all! Mosaic Down syndrome happens during cell division before and/or after conception. You did nothing to cause this to happen.
My child does not have all the Ds features, does this mean he/she will be higher functioning?
- The old saying, “You can’t judge a book by its cover” rings true here. You can not determine your child’s abilities by the physical Down syndrome characteristics they present.
- Depending on where the affected cells are located in the body and how many cells there are will determine how your child is affected.
Will my child need special help?
- The majority of people with MDS develop at a faster rate than those with Ds. Some do not experience any developmental delays while others have extreme delays in one or more areas.
- The majority of children with MDS require special therapy. Your child may have developmental delays with speech, fine and gross motor skills. With the help of Speech, Occupational, and Physical Therapists, your child’s delays can be helped and often he/she will overcome these delays
- Some children require special education once they reach school age. Most children are “mainstreamed” in regular education classrooms leaving for extra support in academic areas. But, some children with MDS require no special education at all!
- There is no way to determine how your child will be affected. With time, you will be able to see his/her strengths and if there is a delay you will be able to help your child with appropriate teaching and therapy.
What health concerns does a child with MDS have?
- Because children with MDS have a percentage of affected cells in their body, they can have the same health concerns of a person with Ds.
- It is important to talk with your doctor about having scheduled Down syndrome health check-ups as described by the DSMIG
What does the future hold for my child?
- No one can tell you what your child will grow up to be! People with mosaic Down syndrome can grow up to be very productive citizens! They have jobs, and families, fun and friends. They have the same feelings as anyone and the same ambitions of their peers.
How should I treat my child with mosaic Down syndrome ?
- Expect the very best from your child and your child will give you their very best! Give them the love and attention that every child needs and enjoy them for who they are. Mosaic Down syndrome is not WHO your child is - it is WHAT your child has.
In this article MDS pertains to both forms of mosaic Down syndrome.
(MDS & MTDS)
Reference: Virginia Commonwealth University/Medical College of Virginia mosaicism for Down syndrome research
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19 Responses to “Mosaic Down Syndrome”
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Hi Kristy,
Thank you for the information about MDS. I did read and doctors did talk about it but I think reading your blog made me clear what it is.
I have to contact doctor to know exactly what does my daughter have. It is very interesting blog and thank you for writing.
I am not a Dr. but have a 26 yr. old son who was diagnosed w/DS at birth. We have always thought he was mosaic because he lacks most of the classic features, and because he functions so highly.
The Pediatrician said unless they could locate one of the cells that wasn’t affected, while he agreed, he could not/would not confirm our suspicions.
We have experienced no significant medical problems; no heart problems. There is a moderate hearing loss and some speech problems, but loss of words isn’t one of them!
He’s quite a young man; has a job, ran cross country in HS, rides English in open and SO Shows, plays golf, swims competitively and plays basketball.
Jerry,
More than likely your son does have mosaic Down syndrome. Most of the time the doctors do not test enough cells to confirm this diagnosis. Please join us in our support groups (the links are on my Helpful Links Page) We would love to talk with you more and hear more about your son!
Kristy
My son is going to be 9 in a week. Although he does not have Mosaic DS he is high functioning. In the begining, I thought he did have MDS but with further reading I realized he didn’t. He has some of the DS features but not all. That’s okay, he is still my “boy”. I belong to the DS Yahoo group and after so many months of reading your stories I thought I’d Check out your site. I like it and will continue to check in. Thanks for all your work and dedication.
Your work here on this blog is inspirational, educational, and just great. Thank you for the work you do.
I have been looking for any useful feedback I can get about my son. He is 2yo now, and as far as I know, does not have Down Syndrome, I never had any pregnancy testing and his development has gone along quite normally, he is speaking short sentences, but lately he has been throwing these really big tantrums, getting uncontrollibly upset and frustrated, hitting, pinching, biting, throwing his weight around, even head butting me as I try to hold him, to calm him.
I looked at him and I thought to myself my baby has down syndrome. None of the medical staff suggested it,and I have never discussed my feelings with anyone, but when he was born I looked at him, I can’t explain it, and I looked at his hands, I thought they might some how look different to my other 2 boys, I didn’t notice anything so I continued the normal bonding a mother and son does and relaxed, getting to know my new, healthy baby.
later on at my 6 week check up, my doctor said he had duel transverse palmar creases, (but really it’s only on one hand), and he has epicanthal folds making his eye look a little turned, she said this can occur in caucasion people without any real reason, and as he was a nice sized, well growing, responsive baby, no one has suggested I get any testing done, I feel like maybe my gut instinct is wrong, but should I get him tested for mosaic down syndrome?
What are the health risks of getting him tested, and if i don’t. I don’t want to make a fuss. I talked to my partner who has agreed that sometimes our son has looked a little ‘different’ but we both agree he is a very beautiful boy, I, like all mothers, just want the best for my son, if anyone can offer any advise, I’d much appreciate it. Kind regards, Alison
Dear Alison,
From what you have said about your son’s characteristics, I would say that there is a possibility that he does have mosaic Down syndrome.
There are no health risks to getting him tested really. A test consists of a blood sample, so whatever health risks go along with have your blood drawn (which are very few and only if something weird happens) that would be your risks.
What they do is take the blood and it is VERY important (especially since he is not a newborn and has had 2 years to have his cells rejuvenate) that he has 200 cells karyotyped. (this is our technical word for it…karyotyped basically means that they need to look at 200 cells)
This is important because if they do a Down syndrome test (20 cells drawn, 2-5 analyzed) they more than likely will not find the two cell lines.
There are cases where the extra cell line (affected or unaffected) can only be found in the skin. So, if a proper blood test is done, and the extra cell line is not found, then a skin test is necessary. Our lab does a cheek swab (buccal smear) but many labs do not do this. If this is the case, they would numb the skin and take a tiny sample (just a scratch really) and analyze that.
There are health risks to NOT getting this diagnosis. Individuals with mosaic Down syndrome do have a percentage of cells that have the extra chromosome found in Down syndrome. Because of this, they are at risk for the same health problems. However, with an annual check up specifically outlined for Down syndrome, your child can stay healthy and if any problems arise they can be addressed immediately.
I know this is hard for you. I know that you are probably second guessing everything at this moment. You don’t want to see your son as different and you feel guilty because you do see him as different. That is ok! Don’t feel guilty about it if you do. You are seeing some problems that may or may not be mosaic Down syndrome. It is much better to find out instead of wondering. It is not about putting a label on your son either. (I know many parents worry about that) If you find out that he has this, then you can help him along the way.
A mother’s instinct is rarely wrong! God gave us that instinct for a reason. I had to push to get my son diagnosed at 2 1/2 years old, so I know what you are feeling.
Call your doctor and schedule an appointment and tell him/her of your concerns. Refer them to my blog and refer them to our organization’s site www.imdsa.org
If I can help further, my email address is Kristy@imdsa.org
Good Luck!
Im Hillary and my 2 year old daughter was looked at by a genetics doctor today . They are testing for MDS . When she was born she was tested for DS and it came back normal female karyotype. We never did any other testing no one really mentioned anything so we just assumed everything is fine. I decided i wanted to get her looked at just to be completely sure there was not anything there we may of missed . She is delayed in her speech, and was a late walker and late at some other milestones. The doctor also thinks this could be some stubborness on her part. Her features that show a possibilty of MDS are eye folds,low set ears , bridge of her nose. Shew is a very smart Little girl besides the no talking. I won’t know the results for a month. Iam really nervous and scared . I just want her to have a normal life and we want more kids. im really overwhelmed with all of this …
thanks 4 this website
Hi Hillary
I am sure that you are very nervous and scared. It is ok! You are not alone. First of all, you are worried about her having a normal life and about having more kids. MDS is not inherited, it happens during cell division, so even if she does have this, this will not stop you from having more children. And, your daughter will have a normal life. Right now, she is not talking, but with this diagnosis you will be able to get her some extra help that she needs to learn to talk. If you would like, you are welcome to call us at IMDSA and I would be happy to talk with you and answer all your questions and address all your concerns!
Please give me a call!
Our office number is:
PH: 979-828-4177
Toll Free: 1-888-MDS-LINK
Kristy
Kristy
Thank-you for responding so fast. Lilly is also having a CGH Micro Array testing done . its very confusing to explain. Looking at her the counclers did not think she looks like DS, but with the few features and the speech delay they wanted to be sure of the moasic.I wish it did not take a month to get the results back. This is all i can think about. No matter what though she is still my Lilly and the same baby i ll always love.You just dont think about this when you have a child. I hope she starts talking soon. She has a mild hearing loss . We are getting her hearing aids in 1 week.We hope this gets her talking .
thanks for listening
Kristy - Thank you so much for maintaining this site. It is supremely helpful. My partner and I just got the results of our amnio and our soon to be daughter has MDS. 4 or 14 cells tested were normal — or, out another way I guess, she is about 72% DS (?). I’ve scoured the internet and have really been trying to understand what differences you can expect between MDS and DS. Some sites –and studies, such as Virginia U - suggest that the differences between the two are not that large — or that frequently seen. On other sites, people describe the differences as being quite profound. Of course, we are looking in every corner for encouraging news, and I think I’m concluding that we should plan for the worse and hope for the best. One question I have is when does the development stop or slow down meaningfully -I’m trying to understand the statements that people make about people with DS being like “perpetual children.” What does that mean? Anyway, any insights and advice would be most appreciated. Many thanks again.
See I’m getting so curious… with it all, I want to know it all. Or as much as I can put myself hands on.
Your site has simple and straight forward information that I have been looking for. My 16 month old daughter was recently diagnosed with MDS. This is one of two sites that I have found helpful - the other being the IMDSA. I really appreciate the helpful information and hearing stories from others regarding this subject. I look forward to reading more on how I can help my child in the future.
Hi, my name is Erica, I am 35 yrs old and 15 weeks pregnant with my 4th child. I’ve just this week received my FISH results back from my CVS test confirming the third chromosome 21 in our baby boy. I had the CVS done because during my 12 week nuchal sonogram/bloodwork, my papp-a level came back low bringing my risk for DS to 1 in 8. My sonogram showed no markers for DS…nasal bone is present, nuchal fold was normal, no spots on the heart/kidneys etc., so when the bloodwork came back everyone including the dr. was very surprised. So being me I have been scouring the internet this week looking for information, looking for answers, looking for why this has happened to me! I had never heard of MDS before only DS. I am wondering if when I receive my final analysis from my CVS (either tomorrow or Monday) if it will tell us if we are dealing with DS or MDS? Is that something that has to be diagnosed once the baby has arrived? I am struggling with all of this and my husband and I are struggling with what the right decision is for our family, for our future. We have 3 daughters to think of also. Anyway, any information or advice you can provide would be much appreciated. Your website is wonderful and a lot of great information!
Thank you!
Erica
Dear Erica
Congratulations on your new baby boy! I know you are full of concerns and worries right now, as most new parents go through the same feelings you are right now.
First, to answer your question, sometimes the prenatal test will show the 2 cells lines found in mosaic Down syndrome and sometimes it wont. I highly recommend you do a second test after your son is born.
What is the right decision for your family? That depends on your family. I can say from experience (personal and talking with families throughout the world) having a child with mDs or Ds strengthens your family beyond description. Your daughters will not suffer by having a little brother with extra chromosomes. They will become much stronger women than they would have been without their brother. They will learn compassion, and patience, and understanding, and pure, unconditional love. And so will you and your husband. Having a child with Down syndrome or mosaic Down syndrome is not what you are envisioning in your head. Any thoughts you have right this instant are more than likely a figment of your imagination and not what this extra chromosome really means for a person. Yes, there will be struggles, but I am sure as a mother of 3 daughters, you have found there are many struggles in parenthood. There really isn’t much difference. You do things differently than you planned, but for each of your children, you do things differently anyway.
Try to enjoy your pregnancy and try not to worry. Please join our online email group. This is a wonderful place for support and information and we have several families expecting babies, so you wont be alone in this pregnancy at all!
The link is http://health.groups.yahoo.com/group/MosaicDS/
If you have more questions, please feel free to email me at Kristy@imdsa.org or you can call our office at 979-828-4177 or Toll Free in the US at 1-888-MDS-LINK
Kristy
Kristy,
Thank you so much for your quick reply! I will definitely join the email group. I’m so glad I came across this website! I was feeling so lost and focusing so much on what the negatives were that I was reading and hearing about. I will be thoroughly going through this website and will share it with my husband! I’m sure you’ll be hearing more from me!
Erica
I can’t believe it took me so long to find this site. My adopted daughter was diagonsed at age 5 as mds. To all the young parents out there let me say there is so much hope for a good future for these children. She is now 15 and leads a pretty normal teen life. She is happy and healthy and has friends. Starting high school this year she is on the Pep Squad and very excited. She is small for her age and mainstreams quite well in school. I remember many sleepless nights ten years ago worrying about her future, mine, and too many tears. We have our challenges but so does every teen parent. She is on her way to graduating high school. There are many career programs at the local community college that will provide her a way to hold a job. Life is good. There are special blessings in all this.
hi there thank you so much for all your writing your website is very informative and has clarified many of my questions. I live in Vienna, Austria and have a daughter who is and integration child in a Montessori class in the 4th grade in primary school she is 9. She has not been officially diagnosed with any label per say besides with possible ataxia which was then corrected by a neurologists ataxia expert here in vienna. autism has been ruled out, however she has learning dificulties, low muscle tone, intentional tremor which is the reason why I started all the investigations in the first place, and speech is difficult for her as well. throughout the years she’s had therapies (speech, ocupational, horse, etc) which have helped. She is very meticulous with time schedules. In my husband’s family there are 4 children (from his sibblings 3 and 1 our daughter) who show similar difficulties and physical traits. I am a primary school teacher who has a study background in children dissabilities. I’ve been observing my daughter and my other 2 children (older and ‘normal’ although I see a few traits in them as well) and the cousins affected with the similar traits I mentioned before, and I am convinced it is a genetic syndrom. however, this is a very delicate subject with my husband and his family, and since it hasn’t prevented any of the adult parents (my husband’s sibblings from leading a fulfilled life, I haven’t made efforts to have gentic testing done.
However, it does wear me down at times, the worrying, the wondering and the terrible nagging thought that she might get better care in the US.
Thank you again,
Lissette
I came upon this website and I’m so glad I did. I have no idea if my daughter has MDS but I’m hoping to head down the road to finding out. When I was pg with her, she only had a 2 vessel cord instead of 3. She was born prematurely and had underdeveloped lungs. She spent the first 8 months of her life screaming from GERD. When she was in the NICU one of the specialists made a passing comment that she might have DS but somehow they ruled it out, or didn’t ever really look into it. She is now 4 and has a speach pathologist and occupational therapist. She is really bright but has a hard time communicating her needs and thoughts. She talks ALOT but is really hard to understand. She has a few of the characteristics such as fine straight hair, flattened nose, low muscle tone, small flat spot on back of her head…
She is on a wait list for an MRI and and EEG. I’m wondering if I should take her to the pedatrician and ask him to do a blood test. What do you think? What would I specifically ask for? Any advice/opinion you could offer me would be appreciated.
Thanks.
Nikki