I am wondering if there is anyone in this community that has a Robertsonian Translocation with Chromosome 14/21? I carry this genetic disorder and so does my mother, brother and sister. Would love to hear your story.
Did you ever find what you were looking for? I have Robertsonian Translocation 14/21 and so does my father, uncle, aunt and grandmother. I wish I could tell you my story is a good one, but I have had one miscarriage and a failed ivf with pgd. We only had 1 "healthy" embryo to implant and although it implanted it must not have had the proper genetic combination. We are going to begin trying naturally again and hope for the best.
The 14/21 translocation happens to typically be a balanced translocation. Normally as far as I know an Unbalanced translocation results in T21 or Down Syndrome.
in Robertsonian translocation the risk for a child with down syndrome or an Unbalanced translocation is %25. I know this because my child has "typical" T21. But during research for DS I came across this related disorder. Robertsonian Translocation accounts for 4-5% of down syndrome cases.
If the mom is the carier the risk for a baby is %12 if it's the father it's %3....
I know I don't have translocation but I love talking to other parents. have any of your siblings or your mother had a child with T21 translocation?
Lol.... srry for the original quote of %25 ... I meant to delete that (I was thinking something else srry) as I mentioned the risk is %12 for a woman and %3 for a man if they have the balanced form of translocation
i also carry the translocation 14/21 and have had 2 babies perfectly healthy as far as i am aware all my family are carriers but no one in 5 gerations has downs or any other illness.i was told my chances are 1 in 10 for all my pregnancies.hope this helps.
i am a carrier of robertsonian translocation i could of had a normal baby a baby that could be a carrier like me and one that could have downsyndrome.i have 3 kids with downsyndrome.i was 21 when i had my first.its been a long hard road for me mentally and phycically.2 girls 14 and 13 and a boy who is 9.i cant believe i found were someone else was like me.no one else has been tested .i have a brother who has no kids and a sister has 2 gifted kids healthy.no one but me has been tested but the genectic docter said to make evryone aware.
We just had a little girl with DS due a 14/21 translocation. You say that you have three kids with DS. I would like to ask two little questions: is there any difference between children with DS due to a 14/21 translocation and a 21 duplication ? I know that DS does not cure, but I was wondering if there was any drug being able to help DS children with their learning abilities or growth problems ?
do u have verizon wireless?if u do can u text?please text me at 9312730885.i wrote u twice and i wasnt even logged in ..do u have other kids,are they ok?please text theres so much to talk about and i will help u .were are u from,ive never met anyone who had this.first thing have echo done on heart even if they listen and say its ok.get on my face book ,seeing mine will help,and the people magazine this month has a little girl with ds modeling.
i dont know for a fact that they are any different but to me u dont see it as well as others.theres no drugs,all are just lies that say they will help.start her in early intervention no later than 6wks.they will teach u ways to help her and they should come to ur house for visits to do therapy.just say in ur mind u will prove all the stuff that says they aint never going to do or will be 6mths late to do it,prove everyone wrong,keep that in ur mind.if u ever need any advice please let me know.get on facebook look me up i have all kind of pics of kids on there .keep in touch,i get on facebook more than here .its weird having this being a carrier i thot i was the only one in the world,anyway,love and prayers to u and ur baby girll
really u r great...having 3 DS kids with u...such a wonderful blessed special mother u are..god bless u more and more..and give enough strength to take care babies... we also have one kid her name is Kezia 5 years old with robertsonian translocation with DS.. kindly convey my regards to your family and kids....keep in touch
Be aware though, when a child with Down Syndrome of any kind is growing up, do not put any boundaries on them and do not expect them to meet milestones at the same time as other kids... they may meet them sooner and they may meet them later. ALL kids are different.
For example, my son with "typical trisome 21" didn't walk until a few days before his 4th birthday, didn't get his first tooth til 15m and didn't smile til a year old. Although he had a very rough start and was more behind than most due to 6 months of illness and hospitalization after his birth and open heart surgery. We did have interventive therapies with him for his first 3 years where a teacher came to my home to work with him.
But you know what? IT WAS WORTH IT. He's taught me and my husband and family so much patience, and how to love.... when his "typical" brother was born and met milestones so quickly it seemed too fast for us!
Regarding medications/treatments for DS. they ARE Working on several treatments to help with cognitive function in patients with DS... here's a link!
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