Can Trisomy 13 kids survive and live a happy life with their diagnosis?

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Looks like they can.
http://www.livingwithtrisomy13.org/trisomy-13.htm

Here is a link to a short essay that was my first big beacon of hope (there have been many since!) for a life of helping my son manage autism
http://www.our-kids.org/Archives/Holland.html  (+ info)

I have been diagnosed as Trisomy 8, now called Warkany Syndrome, and want to know WHEN it was named?

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Please send me an email at [email protected]. I am curious as to what Warkany Syndrome is, what I can POSSIBLY expect in my future and about EVERYTHING about it. Please contact me!
Hey! I am really surprised your diagnostician didn't sit down and explain your condition to you. It is part of their job to answer any questions you may have about it, as other sources, such as the internet, can be an unreliable source of information. If you can you should try and talk to someone who is a specialist in genetics as they will be able to provide you with all your answers, including giving you good treatment plans, etc.

In answer to your question though..."Named after Joseph Warkany, an American human geneticist and pediatrician, 1902-1992" I will provide you with further information about the condition in an email.  (+ info)

Has anyone ever had positive Trisomy 18 test and then nothing really be wrong?

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No, if you have either a CVS or Amnio it is 99% correct, if it is just a blood test/high nuchal fold screening then it just means that you have a higher risk.  (+ info)

Has anyone gotten a false positive Trisomy 18 screen? ?

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In other words, has anyone gotten a positive screen for T18, only to go and on have a healthy baby
I would like to praise God for the healthy baby I had after having abnormal test results on my T18. I went to a high-risk Dr and genetic specialist. I was totally stressed but they did a great job of breaking down the results of the test and my ultrasound and my family history. I walked out with a paper saying that they believed I had a .05% chance of having a baby with problems. If you have had a bad test result I would ask your OB to recommend you to a perinatal specialist and a genetic counselor.  (+ info)

Im 17 weeks pregnant and just found out that my AFP test came back "positive" or "high-risk" for Trisomy. HELP?

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My ratio is 1 in 4 and i have a level 2 ultrasound on the 4th of march. Oh, it trisomy 18. Im really nervous and scared though. Our previous pregnancy ended in a miscarriage and we really want this baby to be healthy! Anyone with any experience or anything please do share!!
Well, I have two thoughts on this.

1) You can't help anything by worrying about it. The kid either has trisomy 18, or it does not. Nothing you can do now. Just relax. If it's got it, you didn't help yourself by worrying, and if it doesn't have it, you just stressed yourself out for no reason. Just wait for the ultrasound.

2) If it *DOES* have it, then there's only a 1 in 20 chance it will be born at all (the in utero death rate is about 96%), and if it IS born, less than half make it to 2 months, and hardly any make it to one year. This is not at all like Down's syndrome---this is vastly, vastly, vastly more severe. It's obvious what will have to be done. At least there will be very little to weigh, philosophically and ethically, if the news is bad from the second ultrasound.

Arm yourself with information woman! You can handle this.  (+ info)

10 pOINTS FOR 5 NEAT ANSWERES,about the disease Trisomy?

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(1)What are the symptoms of Trisomy?
(2)Who gets Trisomy?
(3)When was Trisomy first indentified?
(4)Where (on what chromosome) is the defective gene lacated?
(5)How does Trisomy affect the person who has it?
TRISOMY is a term applied to all congenital (inborn)conditions in which there is extra/additional number of abnormal chromosomes in the cells (Chromosomal Numerical Abnormalities).
If a chromosome is missing, it is called MONOSOMY.

I'll try to clear up your mind by giving a few examples of Trisomies that were the first to be identified (however i don't know about "WHEN they were identified first?".) but the details are beyond the scope of writing just in here.

Different types of Trisomies have differing clinical pictures such as;
In "TRISOMY 21 (Down Syndrome)(exra chromosome at 21 pair)", there is Growth & Mental Retardation, Craniofacial Abnormalities with upword slanting eyes, Epicanthal Folds (i.e. extra skin folds at the medial corner of the eyes), Small Ears, Cardiac defects, Hypotonia etc.

"TRISOMY 18" shows these features; " Micrognathia" (small lower jaw), "Syndactyly" (fusion of fingers), Flexion of hands or fingers, Renal, Cardiac & Mental abnormalities and Low set Ears. child born with it rarely reach above 2 months.

"TRISOMY 13" has features including Deafness, Cleft lip or palate, Eye abnormalities (e.g. Coloboma or Anophthalmia), Holoprosencephaly (i.e. fusion of the lateral ventricles of brain with absence of midline structures), Cardiac & Mental defects etc ......etc.

You can get the details from any good book of EMBRYOLOGY.

...................Praying for your health & satisfaction.........  (+ info)

Are chromosomal abnormalities, such as monosomy or trisomy, confined only to certain parts of the body?

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Some examples of the abnormalities I'm talking about result in Down's Syndrome (extra chromosome 21), Turner's Syndrome (only one X chromosome), Klinefelter's syndrome (an extra X chromosome), and Monosomy 7 (absent chromosome 7).
There are a number of types of trisomy syndromes they are trisomy 21, trisomy 18, trisomy 13, trisomy 8, and trisomy 22. Full trisomies cause multiple abnormalities. The effect of partial trisomy which is when only part of a chromosome is triplicated is variable depending on how much extra chromosomal material is present. So chromosomal abnormalities can be confined to specific areas depending on which type of syndrome is present.  (+ info)

why are kids with trisomy and monosomy on any given chromosome pair born so rarely?

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  (+ info)

Any other 40yr old, pregnant women diagnosed with the possibility of Trisomy 18?

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My wife had a blood test of some sort, fetal screening, and we were told that there was a 1 in 87 chance of our child being born, or not even born, with this rare genetic form. Since then, we have had numerous ultra-sounds to determine the outcome, but have yet to learn. We have heard from others that have had this test that they were all tested positive as well. This being a rare disease, we question the accuracy of this testing. Any comments or suggestions would be greatly appreciated as it has caused a great amount of stress and fatigue on both of us.
Trisomy 18 actually isn't all that rare. 1 in 3,000 (other sources say 1:5000 to 1:8000) live births have it and is the second most common trisomy next to Trisomy 21 (Down's Syndrome). I'm guessing that the blood test you mentioned having done was an AFP? If so, did they go on to do an Level 2 (aka targeted) ultrasound? If they did, they would have been looking for markers of Trisomy 18. From there, an amniocentisis of CVS would have been recommended (if any markers were found). That's the only way you'll be able to know for sure if your baby has Trisomy 18.  (+ info)

Info exchange on people/children with Trisomy 8 Mosaicism Syndrom?

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My son has Trisomy 8 Mosaicism Sydrom and I have come across questions about it and want to become of use on the subject maybe start a support group and learn from others that have experiences with it as well...It so rare and broad that there is not a lot of info on it but I have collected what I could/can I would love to speak to others...
Sorry your son has this and hope he has a happy life in spite of it.
Maybe you can start a group on Yahoo groups but wait until after they switch things in Jan or Feb.

My great niece has trans location downs where her 7 moved or something. She is 9 and doing great going to school, learning things and on a soccer team. Last week she kicked the ball hard and was happy with that. She is a joy to the family and I hope your son is a joy to yours.  (+ info)

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