Hello i am new to this site....My son jayden is two and a half and has a rare type of DS....i havent met anyone with this type. Jayden is 1 out of 1 million kids that have this sort of DS......he has actually lost genetic material instead of actually having the extra because his chromosomes are ringed..he is pretty healthy he is small at 17 pounds....he is very delayed.....my last hope to find someone out thier with the same.....Thanks for listening Sue

Hi Sue and Jayden, welcome to DownSyn. I never heard of chromosome ring 21, sounds interesting and I'd love to hear more about it. I hope you find someone else to share your experiences with on this board.

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Karen- Mum to the world's cutest baby!! Ben

Thanks me too!

Hi and welcome. I haven't heard of it, but Down Syndrome and cerebral palsy together are nearly as rare and there are at least 3 of us here on the board whose kids have that combo. If there isn't anybody else here yet, somebody has to be first .

Did the geneticist give you any information as to what to expect and if the issues for Chromosome ring 21 are pretty much the same as for Trisomy 21?

Wanted to let you know that there are lots of other kids here that were only between 15 and 20 pounds at your sons age. It's below average but it's not unheard of. If you haven't yet, you should have a GI check for medical issues that may contribute to the small size, but if those are ruled out I wouldn't worry. Growth along the curve of the chart (no matter how far from the curve they are) is actually much more important than the size to age measurements.

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http://www.carepages.com/carepages/DavidLucas

Hi and welcome...I also have never heard of this, but I'm sure someone here knows more about it. Glad your joining us and can't wait to get to know you and your son.

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~Christine~
Mom of 6
Brandon ADD/ADHD 17, Chelsea 14, Connor 12, Logan 6, Cody 4 & Austin 1 ( DS & Hirschsprungs pull through 12/8/08 )
http://www.caringbridge.org/visit/austinpaquin

Hi and welcome.
I haven't come across anyone with chromosome 21 ring, and on reading around on the internet i didn't find anywhere that referred to it as Down syndrome. I had always thought DS was specifically having an extra copy of 21, where as your son's condition means he is missing some of each 21st chomosome and the remaining pieces have joined to form a ring. Either way, you are so welcome to join us here and I'm sure our children will have much in common. It must be really difficult having something so rare to deal with.
I am sure SOMEONE here will know someone!!

Again, welcome, we are glad that you have come to join us!

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Mum to Brendan 15, Chiara 14, Kiernan 12, Aidan 10, Lachlan 9, Gianna 7 (DS) and Sienna 5.
"This then is what Yahweh asks of you: to act justly, to love tenderly and to walk humbly with your God."

Everyone here will tell you that I'm the resident "scholar" LOL. If I am confronted with some rare disorder or question (the rarer the better) I see it as a challenge and I dig into the most obscure places until I find the answers.

So here's your info. By all means though, continue your membership here. We are a very closeknit family here and even have a few members who joined while pregnant with a suspected down syndrome diagnosis and stuck around just for the friendship after giving birth to typically developing babies.

http://www.rarechromo.org/information/Chromosome%2021/Ring%2021%20FTNW.pdf

Quote:

How common is Ring 21? Around 60 people have been described in the medical literature but there are certainly many more. Generally speaking, ring chromosomes occur in around one in every 25,000 conceptions. At the time of writing, Unique had 25 member families affected by Ring 21, making a small community of affected families. Families who wish for contact can be put in touch with each other.

And the homepage. Look in the Member Families Area to find their Members Forum.
http://www.rarechromo.org/html/home.asp

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http://www.carepages.com/carepages/DavidLucas

Thanks, Christina!
And Sue, I completely agree that you are a full member of the '21 club'!!!

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Nature goes her own way and all that to us seems an exception is really according to order.
-Goethe

Thankyou both....i have looked at that site as well but still have no luck....Jayden is down syndrome because of the 21st chromosome....but his extra copy made a ring....its so hard to understand but i am sure ill find someone Sue

Take another look at that first link. On pages 3 and 4 you'll find the 3 types of chromosome ring 21.

Quote:

Main features There are three different types of Ring 21. Types 1 and 2 are associated with a loss of material from chromosome 21. Type 3 is associated with extra material from chromosome 21. The paediatrician or geneticist should assess which type best fits your child. Ring 21: Type I • Normal development. • No effects on health. • Possibly short stature. • Discovered by chance, or during infertility tests or investigations for repeated miscarriages or after a baby with abnormalities or Down’s syndrome is born. • In boys and men, puberty may possibly be slightly delayed. This type of Ring 21 makes no difference until people want to have children. It is believed that people who show no effects of their ring chromosome have a single ring with a break at the very end of the long arm of chromosome 21. The site of the break in the short arm is not important as the short arm carries no genes of clinical importance. In one child, the end of 21p was found attached to chromosome 1 Ring 21: Type 2 People with this type of Ring 21 have a wide variety of different effects, which can range from being slight to severe. Some of the more common ones are: • Short stature. • Small head circumference (microcephaly). • Seizures. • Learning disabilities, ranging from mild to severe. • Underdeveloped sex organs (both boys and girls). • Vulnerability to infection. Other more common effects described in the medical literature include heart defects; hypospadias (where the hole normally at the end of the penis is on the underside); cleft lip and palate or a high palate (roof of the mouth); eye defects (see list under Eyes, page 10); defects in the development of the brain or skull, with the plates of the skull fusing early (craniosynostosis); defects in the immune system; torticollis (twisting of the neck); thrombocytopenia (a low level of platelets in the blood). The band at the tip of 21q, known as 21q22.3, is unusually rich in genes and many of the clinical problems are believed to be caused by the loss of genes in this band or by an imbalance in other genes. Other features Many other features have been described in babies and children with Ring 21 or 21q- (loss of chromosome material from the long arm of chromosome 21). They do not occur commonly and it is not known whether they are specifically linked with chromosome 21 or not. These include: inguinal hernias (in the groin); choanal stenosis (blocking of passage from nostrils to throat); missing auditory canal; kidney anomalies; rib abnormalities, missing bones (fibula, in lower leg); abnormal site of the anus; hydrocephalus (abnormal increase in cerebrospinal fluid in the ventricles of the brain); underdeveloped lungs; a delicate, dry skin; ‘sandal gap’ between the big and second toes; short neck; congenital deafness; missing fifth finger Ring 21: Type 3 A few people with Ring 21 have: • Features similar to Down’s syndrome. Down’s syndrome is caused by having three copies of chromosome 21 and specifically three copies of the ‘Down’s critical region’ that appears on the long arm of chromosome 21 at 21q22.3. In people with Ring 21, it is believed that Down’s syndrome is caused by having a double-sized or multi-sized ring in many cells, so that the ‘Down’s critical region’ appears at least three times in most of the child’s cells. Having three copies of the critical region does not appear to always cause Down’s syndrome, however. One child has been described in the medical literature with a double (dicentric) ring and three copies of the Down’s critical region in most cells who nonetheless had no signs of Down’s syndrome

If the geneticist described it as down syndrome AND ring 21 he probably has type 3.

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http://www.carepages.com/carepages/DavidLucas

Thank you soooooooo much for this info it helped me understand a bit more i just dont no which type he has may 2 or 3 he has bites and pieces of both .....thanks again!!!!xoxoxoSue

I was at our child development clinic yesterday and seen a poster for rare chromosome disorders and I thought of you. They are based in the UK, I hope you find someone there with the same diagnosis.

www.rarechromo.org

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Karen- Mum to the world's cutest baby!! Ben