Guest guest Posted December 10, 2004 Report Share Posted December 10, 2004 I didn't know there was such thing as having a percentage of down syndrome. This is the first that I'm hearing of it. How can I find out what percentage of down syndrome my son has? At first I didn't know what type of down syndrome he had, i.e. mosaic, trisomy, translocation, but I think I finally figured it out with the help of this group that he most likely has the translocation. Is there a percentage of that? Thanks for all the help! I really look forward to reading each posting I receive....every posting opens my eyes more. Ivy Mom of , 3 weeks old DS Roy wrote: > This is a reply to . As far as I know, the actual chromosome > percentage in relation to the physical/mental symptoms varies > tremendously. But my Ayla, who is 10 months old, was diagnosed with > having about 2% Trisomy 21 cells and we've yet to see anything > different. The pediatrician we were referred to said to just ignore > the diagnosis, and go on living life normally. Ayla is thriving > amazingly, sat up, crawled and stood independently on time if not > early. She is just starting to walk and is only 10 months old. We are > so proud of her and in a way we are happy about her diagnosis because > it makes us appreciate her successes even more . > > Good luck in your decisions, > Roy > > wrote: > > ... and we have three new members of the e-group. > > 1) Michele wrote: " My 4 year old son was adopted when he was 2 years > old. He has always had a complex medical history and sees a lot of > medical specialists. Last week, we went to see a new doctor in our > continuing quest for information about the cause of his hypotonia. I > was quite shocked when this new specialist, a physiatrist, told me > that he was quite sure that my son has MDS. I had never heard of > this and couldn't believe that it would not have been recognized > previously. I have read some of the stories on your web page and > have learned that for some of you, it did take 3-4 years to get a > diagnosis. We have been referred for genetic testing, but I am > anxious to learn more in the meantime. The developmental > pediatrician who has followed my son since birth has indicated to me > that the physiatrist may be correct in his suspicion, but that she > did not recognize the cluster of symptoms previously. I would just > like to learn as much as I can so that I will be prepared in January > in the event that testing proves this is MDS. Thank you. Michele " > > 2) Deborah wrote: " Hello, we are and Deborah Gutierrez. Our son > is 12 years old and was diagnosed with Mosaic Down Syndrome at > the age of 8. has 4 sisters, they are Sesilia 16, Alina 14, > Hope 6 and Molly 4. is a sweet and very playful child. > does have the tendency of having a very bad temper at times. Our > family has been able to adjust to 's needs, but I have noticed > lately that has been a bit more aggresive lately and has been > acting out at school. My intentions for joining the group was to be > able to chat with other families who may be experiencing behavior > issues. " > > 3) wrote: " Hi. I am a single mother of a 23 month old > daughter. I am considering adopting a 15 mth old boy from Russia who > has been diagnosed with 1% down syndrome. This percentage seems low > to me. I am not sure that Russia has the resources to make such a > specific diagnosis, but that is the diagnosis they give. I wondered > if any of your members have heard of a MDS diagnosis with this low of > a percentage of Down cells. The percentage really doesn't matter, I > am just curious. I would also like any advice or information that > your members can give me. I am in the process of the home study > right now. Thank you for your help. Osborne " > > Welcome Michele, Deborah, , , Hope, Molly, and > families! > > > > > > Become a member of IMDSA today at http://www.imdsa.com > ************************************************* > Learn more about MDS http://www.mosaicdownsyndrome.com > ************************************************* > Contact IMDSA Today at: > IMDSA~PO Box 1052~lin,TX~77856~USA~1- > ************************************************* > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 10, 2004 Report Share Posted December 10, 2004 Ivy... a person can have a mosaic translocation...we do have one boy in our group with that type of down syndrome, and I'm sure his mom would explain it much better than I... only with mosaicism are there " percentages " because they have 2 cell lines, one with the normal 46 chromosome cells, and one with the 47 chromosome cells... so this ratio can be converted into a percentage. From my understanding though, Translocation DS and typical DS present exactly the same...only difference is, instead of a free standing extra 21 chromosome, it has attached itself to another chromosome. All the features, symptomes, etc would be the same as typical, or full down syndrome, so the feature would be much more prominent. Children with mosaicism, depending on the percentage, have varying features... some have NO physical traits of down syndrome, some have all the physical traits of DS...and most are somewhere in between!! This is , and my daughter Jaeda on Halloween, he has milder features... many who see him out and about can't tell he has any kind of Down's...which sometimes leads to be being frustrated at having to explain ;-) ~~ANGEL~~ Mom to: , 11, Mosaic Down Syndrome/Hirschsprung's Disease Lance 16, Tyler 12, 9, Jaeda 8 and Shayne 2 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 10, 2004 Report Share Posted December 10, 2004 I always forget we cant add pictures or attachments... doh Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 12, 2004 Report Share Posted December 12, 2004 Angel, You can put pictures or attachments in our file section. but don't forget to send your pictures to at mosaicdownsyndrome@... and she can put it on the website! Kristy LDSAngel77@... wrote: I always forget we cant add pictures or attachments... doh Quote Link to comment Share on other sites More sharing options...
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