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Mosaic Down Syndrome-A Grandma's Perspective

Updated on November 27, 2009

Something Amiss

My first and only grandson, Logan, was six months old when I saw him for the first time. I noticed immediately that he looked different to me, but was so enamored by his sweet little angelic face, bright eyes, and adorable smile that I just kind of filed my observation away for later consideration. My son, who was a first time daddy, was beaming with pride and raved about what a good baby his son was. He said, "Mom, he never cries! He is just so content and happy!"

Consequently, I spent the remainder of my son's eight day visit watching my grandson closely. He seemed alert and responsive. He ate well. He cooed and laughed and played, rolled over, and did, indeed, appear normal in every way, with the exception of the fact that he did not cry. My grandson was a very cute little guy, but there were subtle hints of Down Syndrome in his features. His eyes had a slightly almond shape and slant. I noted the shape of his head, shape and position of his ears, his little tongue, that always seemed to protrude, and a distinct gap between his big toes and his other toes. My instincts are usually pretty good, so my initial gut reaction was a fearful suspicion that my grandson may have Down Syndrome. My son told me that the baby had been tested for Down at birth, and the doctor told him and the child's mother that all the test results were normal. My son was so happy and proud of his son that I didn't have the heart to verbalize my fears. I dismissed my fear that something was amiss, and set about being the doting grandma that I am.

One evening, several months later, I received a frantic call from my son. Several ladies from a church where my grandson had been taken had made comments about the baby having Down Syndrome. I took that opportunity to gently tell him that I had suspected this, as well, which he emphatically refuted by reiterating the doctor's test results at birth. I suggested that it might be wise to have Logan evaluated by a genetic specialist, but that suggestion was not well received by either my son or the pediatrician. Yet, I was concerned.

I had a friend who had a 24-year-old Down's son, and I talked to her about Logan. Being the experienced, well-read resource that she was, my friend suggested the possibility of "Mosaic Down Syndrome" and strongly recommended a consult with a genetic specialist. I had never heard the term "Mosaic Down Syndrome" and set out to learn all I could about it, to discover that it was a relatively new discovery about which little was known. Mosaic Down Syndrome had only been acknowledged as a variation of Down Syndrome about five years prior to this. Little research existed to refer to, and Mosaicism was largely an "unknown" in the medical and professional world.

My grandson's pediatrician at the time refused to give a referral for genetic testing, since he had already been tested at birth and found to be "normal". Three years and several doctors later, a referral was finally given and Logan had genetic studies done at the University of Kentucky, where he was diagnosed with "Mosaic Down Syndrome" with a rating of 14%. The ultimate goal of this article is to share what I have learned about "Mosaic Down Syndrome" and raise public awareness of its existence.

What Is It?

Mosaic Down Syndrome, also referred to as Mosaicism, accounts for about 2-4% of all Down Syndrome cases. In layman's terms, as I understand it, DNA, short for deoxyribonucleic acid, is the material found within each cell nucleus that contains the instructions and hereditary patterns for cell reproduction that results in the formation of a living thing. It is made up of chains of chromosomes. Down Syndrome occurs when there is the presence of an extra chromosome, chromosome 21, in the DNA chain caused by an error or misdivision of chromosomes in either the egg or the sperm cell, before they unite to form the fertilized egg called a zygote. All cells subsuquently produced from that zygote with the extra chromosome 21 will also have the extra chromosome, resulting in Down Syndrome, technically known as Trisomy 21.

In contrast, an error or misdivision occurring AFTER fertilization, at some point during the stages of early cell division of the already formed zygote, results in the occurrence of two cell lines, one with the normal number of chromosomes and one with an extra number 21 chromosome. This is referred to as Mosaic Trisomy 21. The term "mosaic" comes from the artistic style of creating a picture from different colored tiles.

Characteristically, a blood test for Down Syndrome is performed either by amniocentesis or CVS during pregnancy, or at birth where white blood cells are studied. The chromosomes in twenty different cells are counted in a procedure called a karyotype analysis. If all the cells counted contain the extra 21 chromosome, the child has Trisomy 21. On the other hand, if two or more of those twenty cells are normal, and the other cells have an extra 21 chromosome, the baby is said to have Mosaic Trisomy 21.

If Mosaicism is suspected, the chromosome specialist, a cytogeneticist, will generally count extra cells within the blood sample to confirm the diagnosis. The degree of Mosaicism is usually determined by a percentage formulated from the ratio of normal cells to cells containing the extra chromosome. It has also been discovered that the double cell lines seen in Mosaicism can be found in other tissues or body parts.

Babies born with Mosaic Down Syndrome CAN, but do not necessarily, have the same features and health problems characteristically seen in Down Syndrome individuals. The presence of cells containing the normal number of chromosomes with the cells having the extra chromosome are thought to result in fewer, or less severe, symptoms than those displayed in Down Syndrome. Unfortunately, studies have shown that the degree to which a child may be affected cannot be predicted by the percentage of normal cells versus Trisomy 21 cells in any given child. A child with Mosaicism can have any range and degree of severity of symptoms, from very mild or no features, to having the majority of features usually seen in a full blown Down's. For example, according to current studies, IQ levels in Mosaic Down Syndrome individuals are on average 10-30 points higher than IQ levels typically seen in persons with Trisomy 21. Only time will tell how any child's development will be affected, as it stands today.

Logan Today

My grandson, Logan, will be six years old in January, and is presently enrolled in a regular kindergarten class. The school system initially wanted to place him in a special education class for Down Syndrome/Autistic children. My son, Logan's dedicated daddy and advocate, insisted that, since Logan is so much more like a regular child than a Down's child, placing him in the special class would be more detrimental to his development and education, than beneficial. The genetic specialist that evaluated Logan told my son that, from what he could tell, the chromosome anomaly in my grandson occurred during the final stage of cell division. He thought that the main areas most likely affected in Logan would involve only his physical features and muscle tone, since those are the systems developed during that phase.

Upon looking at him, Logan has a slight Down's appearance which is not always noticeable. He is extremely limber, more so than any other child I have seen, and has extraordinary strength for his small frame. His speech development was a bit delayed, and he receives ongoing speech therapy, which has certainly helped. He is very verbal and has a pretty extensive vocabulary for his age. Potty training has been challenging, but with consistent cues, he is accident free. He also gets occupational therapy to assist with his motor skill development and abilities. Presently, the degree to which he is physically and mentally affected is mild. He wears glasses due to a degenerative eye disease than can be corrected surgically at the age of seventeen, according to the doctor, and thus far, his heart and other organs are normal and healthy, but will be closely monitored for any changes as he grows. Logan does have some issues with sleep apnea, which the doctors are working on. He is a sweet, affectionate, bright little fellow, with an amazing wit and imagination, and of course, he is the "Apple of my Pie"!

I continue to search for more information and insight into Mosaic Down Syndrome, as it becomes available in order to support my grandson and his parents, and share our experience and knowledge with others who may need it.

For More Information

For more information about Mosaic Down Syndrome, contact Dr. Colleen Jackson-Cook or Lauren Vanner at the Department of Human Genetics at the Medical College of Virginia/Virginia Commonwealth University, P.O. Box 980033 Richmond, Va. 23298-0033. They have published a booklet on this topic that is available free of charge.


Leshin, Len, MD, FAAP, " Mosaic Down Syndrome",

Fergus, Kathleen, "What is Mosaic Down Syndrome?", Guide.


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    • profile image

      ZoomBlosseFum 2 years ago

      Hello my loved one! I want to say that this article is awesome, great written and include almost all vital infos. I would like to look extra posts like this

    • profile image

      Ilona 3 years ago

      I and my pals have been viewing the nice ideas found on your web page and qulikcy developed a terrible feeling I had not thanked the site owner for those techniques. All the people happened to be consequently passionate to study all of them and have in effect in actuality been tapping into these things. Many thanks for getting quite kind and also for opting for such tremendous information most people are really desperate to discover. Our sincere apologies for not expressing appreciation to sooner.

    • tnderhrt23 profile image

      tnderhrt23 7 years ago

      Sherry, I tried to send you an email, but it tells me you are unregistered here on Hubpages...go to my hub, Mosaic Downs and on the right hand side just below my photo is a list of on send tnderhrt23 a message or contact tnderhrt23. Your message will be sent to my email addy. Include your email address, so that I can contact you. Thanks!

    • profile image

      sherry 7 years ago

      Mine is a little swimmer also! I have pictures everywhere. His parents won't let me take him to lessons out of fear but he wears swimmies and jumps off the deep end and loves it and I have to admit it scares me but he seems fearless! Thank you and please stay in touch. If you can and if it is permitted can you email me?

    • tnderhrt23 profile image

      tnderhrt23 7 years ago

      Sherry, your comment is so heart-wrenching, and I so know what you feel. I can share my own experience with you, only. I don't know where you live but where I live, there is a place called Early Intervention Center that specializes in autism, downs, and other disabilities. Do some research and seek out something like this. My grandson has been placed in a regular classroom because intelligence wise, he belongs here. But there have been some behavior issues that are issues. I work with my grandson, reading to him, working in activity books, and teaching him things like sign language and songs. Taught him to swim this past summer...he is a little fish...Your grandson is a lucky little fellow to have a gramma like you! Read all you can about Mosaic Downs...there is not a lot available because it is only recently recognized...keep in touch. Perhaps we can support each other in this journey! God bless!

    • profile image

      Sherry (meemaw) 7 years ago

      God Bless You!! After 6 1/2 yrs I didn't give up on my grandson and after taking him to genetics they finally took a plug from the back of his scalp and found the mosaic downs! We are now starting to learn. I knew all this time and wouldn't give up. He is Jr. and the apple of my eye and so loving and kind to his sisters, I want to help him. Please help me to learn. I live 2 1/2 hrs away but take off work and take him 5 hrs to Childrens for all the work ups or anything needed. I knew the moment he was born that God had touched him and made him extra special now I just want to help him to get all the help he can get. For Christmas he wrote his full name on an erase board for me and let me take a picture and then erased it and he has never done it before or since! He is in a learning center and I feel he has more to offer. Please someone help me to help him!!!

    • tnderhrt23 profile image

      tnderhrt23 7 years ago

      Fossillady, thank you. I don't always know when to "bite my tongue" but...I try! The occupational therapist who came to their house to evaluate Logan had never heard of Mosaic Down Syndrome, either, and I had to pull it up online to show her! It is not a well known thing, even in the professional and medical realm! Hence, the purpose for this Hub. Hopefully that will change someday! Peace to you!

    • Fossillady profile image

      Kathi 7 years ago from Saugatuck Michigan

      Must have been a trying time in the beginning. A good mother knows when to bite her tongue, as you did. Excellent written hub! I had never heard of Mosaic Down Syndrome. Thank you

    • profile image

      Tony DeLorger 7 years ago

      Extremely informative hub, Thank you.

    • tnderhrt23 profile image

      tnderhrt23 7 years ago

      theresa, My heart goes out to you.

    • profile image

      theresa 7 years ago

      Thank you for that...

      I am going through something like that right now.

      My daughter who is 6 is being tested.

      Having to wait for the phone call has been very hard.

    • tnderhrt23 profile image

      tnderhrt23 7 years ago

      it is an honor to share this information concerning Mosaic Down Syndrome and my precious grandson, Logan. I thank you sincerely for reading and responding, and will keep you in my prayers and my heart.

    • profile image

      MotherofMosaic 7 years ago

      Great Information, my son is 7 months old and has Mosaic Down Syndrome, 13% cell count. We are excited to see what is in store for him and are LOVING the baby stage of these special angels. thanks for getting the education of Mosaic out there!!

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      Agnes 7 years ago

      I have just become the grandmother of a baby boy who has been diagnosed to have Down Syndrome. I admire the attitude of the granny above and I too feel that I can help make a difference to the life of the little fellow, he is adorable already and only a day or two old. I can see him in the future running around and doing great. Thanks for your informative article.

    • Peggy W profile image

      Peggy Woods 8 years ago from Houston, Texas

      Thanks for this very informative hub about Mosaic Down Syndrome. Your grandson is certainly surrounded by people who care, love and support him. And that sweet 6 year old is a blessing to all of us here on hubpages thanks to your writing about this subject. Bless you and your entire family.

    • profile image

      VIVIAN J 8 years ago


    • Zsuzsy Bee profile image

      Zsuzsy Bee 8 years ago from Ontario/Canada

      Wow, a great hub. Thank you for sharing all this information and insight into Mosaic Down Syndrome.

      great hub

      kindest regards Zsuzsy