Guest guest Posted October 27, 1999 Report Share Posted October 27, 1999 Hi everyone, We had a visit to our geneticist and genetic counselor today as a follow up (they like to see us once a year). Anyway it was a very nice visit and we are very fortunate to have them as a resource. They refer new people diagnosed with MDS to me and one other family to get info and support from. The visits are mainly for them so they can keep track of how we are doing so they can better help new families with this diagnosis. These are two super women who are very supportive. Anyway....they were talking to me about a research idea they have been thinking of. I'm assuming we all have a basic knowledge of basic genetics here, when our children were concieved in all likelyhood they started out with the extra chromosome, then in early cell division they " lost " one of the extras making them mosaic. The research question she is thinking of is who's chromosome did the child lose, one of the mom's or the dad's, in other words, do they have two 21s from one parent in the " normal " cells or one from each, and does this affect them as we all have little flaws in some of our genes. Am I explaining this good? Anyway, I found this to be an interesting thought, and it made me wish there was more research into this going on. Not much else new going on here, Mahrya continues to enjoy school and is talking more and more all the time, this is an exciting time for her. I am interested to hear the responses from our new member (welcome by the way) to all the questions asked as well. Luanne mom to Mahrya 3 mds, Ben 4, Alan 11, Sandy 13, Steve 15, Dan 16 living in Wisconsin and looking forward to winter and SNOW!!!! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 27, 1999 Report Share Posted October 27, 1999 Hi Sue, I have a booklet put out by a doctor doing research in the area of MDS in VA. I would be happy to send you a copy if you are interested. According to her info about 70% of the cases of MDS are caused the way I mentioned and 30 % with the egg starting out normally. It is a quite interesting booklet and she gave me permission to make copies to give to people who want to learn about this. The info you have been sharing about your son has been very interesting, sometimes the future is scary for me, the mother of a 3 yr old with mds, and it helps to hear from people who have " made " it and are doing well. Luanne > >Reply-To: MosaicDSonelist >To: MosaicDSonelist >Subject: Re: visit to the geneticist >Date: Wed, 27 Oct 1999 18:37:26 -0500 > >This is the first I've heard that in all likelyhood the conception began >as an individual with an extra chromosomes #21 in all cells and then, in >a later division, a cell lost the extra chromosome, leaving some cells >without the extra chromosome. Any reference I can check on this matter? >My understanding is/was that the errant cell-division occured after the >first cell division, that the conception began with the correct number of >chromosomes and in a later cell division, a cell divided unevenly. --Sue >Stine (Dylan, 28, MDS) > >On Wed, 27 Oct 1999 14:33:26 PDT " LUANNE ECKERT " >writes: > >>>Hi everyone, > > > I'm assuming we all have a >basic >knowledge of basic genetics here, >when our children were concieved in > >all >likelyhood they started out with the extra chromosome, then in >early > >cell >division they " lost " one of the extras making them mosaic. The > >research >question she is thinking of is who's chromosome did the child >lose, > >------------------------------------------------------------------------ >Won't you please consider adding your personal story on the MDS website >today? http://www.mosaicdownsyndrome.com And please don't forget to check >the message board frequently...it's a great way to meet others who are >affected by MDS, who are not on our mailing list! >http://www.insidetheweb.com/mbs.cgi/mb778401 ><< text3.html >> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 27, 1999 Report Share Posted October 27, 1999 The >research >question she is thinking of is who's chromosome did the child lose, one of >the mom's or the dad's, in other words, do they have two 21s from one >parent >in the " normal " cells or one from each, and does this affect them as we all >have little flaws in some of our genes. Am I explaining this good? Hi Luanne, I too am interested in genetic research about our children. Could you please explain the research question again. I would also be curious as to the broader purpose of the research. In other words, would this simply help explain how the MDS occurred more fully; does this have an application, etc. Carla MO Maggie 3 1/2 (mds) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 27, 1999 Report Share Posted October 27, 1999 Yes, this was also my understanding although I had read of the other possibility as Luanne described. More information, please. Thanks, Carla Duffy MO Maggie 3 1/2 (mds) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 1999 Report Share Posted October 28, 1999 This is the first I've heard that in all likelyhood the conception began as an individual with an extra chromosomes #21 in all cells and then, in a later division, a cell lost the extra chromosome, leaving some cells without the extra chromosome. Any reference I can check on this matter? My understanding is/was that the errant cell-division occured after the first cell division, that the conception began with the correct number of chromosomes and in a later cell division, a cell divided unevenly. --Sue Stine (Dylan, 28, MDS) On Wed, 27 Oct 1999 14:33:26 PDT " LUANNE ECKERT " writes: >>>Hi everyone, > I'm assuming we all have a >basic >knowledge of basic genetics here, when our children were concieved in >all >likelyhood they started out with the extra chromosome, then in early >cell >division they " lost " one of the extras making them mosaic. The >research >question she is thinking of is who's chromosome did the child lose, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 1999 Report Share Posted October 28, 1999 Hi Carla, I'll try and explain it again, in about 70 % of the cases a MDS person staeted out with the extra chromosome from conception. At an early cell division, one cell lost the extra and ended up with the normal amount...2. Because they started out with three, they got two from one parent and one from the other. When they lost one, did they retain one from each parent, or, do they have 2 from one parent. Because we all have minor flaws in our genes, when you get two chromosomes from one parent that flaw is then made more apparent. (This is the same principle why inbreeding does not work) The purpose of the research would be to check who has two from one parent and also check those who have one from each and see if this makes any difference in how a person develops, both with health related questions and developmentally. Of course we still would not know how many brain cells are affected in either case, but if there was a big enough test group you might be able to see trends. All this is just in the talk stage now and she is not doing the research at this time, I just thought it was an interesting twist that I had not thought of. Luanne mom to Mahrya 3 mds, Ben 4, Alan 11, Sandy 13, Steve 15, Dan 16 > >Reply-To: MosaicDSonelist >To: MosaicDSonelist >Subject: Re: visit to the geneticist >Date: Wed, 27 Oct 1999 18:30:47 PDT > > > > >The >>research >>question she is thinking of is who's chromosome did the child lose, one of >>the mom's or the dad's, in other words, do they have two 21s from one >>parent >>in the " normal " cells or one from each, and does this affect them as we >>all >>have little flaws in some of our genes. Am I explaining this good? > >Hi Luanne, > I too am interested in genetic research about our children. Could you >please explain the research question again. I would also be curious as to >the broader purpose of the research. In other words, would this simply help >explain how the MDS occurred more fully; does this have an application, >etc. > >Carla >MO Maggie 3 1/2 (mds) > > >------------------------------------------------------------------------ >Won't you please consider adding your personal story on the MDS website >today? http://www.mosaicdownsyndrome.com And please don't forget to check >the message board frequently...it's a great way to meet others who are >affected by MDS, who are not on our mailing list! >http://www.insidetheweb.com/mbs.cgi/mb778401 ><< text3.html >> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 1999 Report Share Posted October 28, 1999 Thanks, Luanne. I'm guessing you're talking about the studies being done by Colleen -Cook at VCU, to which we contributed information, in 1995. I don't know whether we received a booklet on the findings or not, so, give me a chance to check a few places in the file before I ask you to copy and send the booklet. The future is scary for all parents; life is messy, at times. I've found that my fears are usually 10 times worse than actuality and that for all the mess, life is still very good and worth the adventure. ---Sue (Dylan, 28, MDS) On Wed, 27 Oct 1999 17:49:46 PDT " LUANNE ECKERT " writes: >>>Hi Sue, >>I have a booklet put out by a doctor doing research in the area of MDS >in >VA. The info you have been sharing about your son has >been >very interesting, sometimes the future is scary for me, the mother of >a 3 yr >old with mds, and it helps to hear from people who have " made " it and >are >doing well.> >Luanne > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 29, 1999 Report Share Posted October 29, 1999 Very interesting. No one has ever explained Trisomy like that to me. Sounds like a very worthwhile research question. Thanks, Carla MO Maggie 3 1/2 mds Quote Link to comment Share on other sites More sharing options...
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