Chromosome 5p duplication syndrome is a disorder characterized by the duplication of all or part of chromosome 5.
I posted on here a few years ago, time has given us so many answers but also given us soo many more questions. Looking at connecting with people that have the same duplication as my son who is nearly 6 thanks in advance Amy
I have a 5p15.33 duplication. I also have 11 biological children. 2 children have undergone genetic testing. One child, my son, Luke also shares the same duplication. He had a variety of challenges including many medical conditions He was a very special child who love life and loved God. He grew to be a wonderful young man who was studying to be an electrician. He passed away from a very severe, sudden, swift and unexpected asthma attack.
Hi Kelly, FINALLY found someone else. My son is micro duplication on 5p15.33 duplication in mosaic form. He is 5. Would be great to hear from you and understand how your daughter is doing. I have been in contact with another parent also who shares this same duplication. I'm also in the USA, in WA. Thanks, Debbie
Hi Dawn My daughter age 4 was DX at age 2 with a micro duplication on 5p15.33. We live in the US. More specific NJ. We have been told that there is no one in the database with exactly the same size duplication to compare Isabelle to. With that said, she had delays in speech and only had a 20 word vocabulary at age 3. She has sensory adversions( noise, some clothing..she says itchy, she has what we call meltdowns ( different from a temper tantrum, she is our 3rd child), food adversion.Most of what I can describe are what drs have described as symptoms and we just treat those. The biggest challenge we are facing currently is sleep, she just can't fall asleep or stay asleep. We go back and forth with using melatonin. After awhile she gets used to it and we wean off and then wait and go back on. She is being tested for two different kind of seizures. One that happens in her sleep and the kind where she stares into "space" and you can't get her attention. We have had an MRI, she has a larger cerebellum, which could cause the autistic like behavior. It is a long road, but we have found since there isn't much known about 5p yet, if your child is having a problem in a certain area and it doesn't fit into another DX 5p will cover it. We have used it for school to get Isabelle any extra help she could possibly qualify for. I know it is frustrating with the lack of info out there for our children. Hope something I said was helpful. Kelly
Hello, My son is 4 and he also was diagnosed with duplication in chromosome 5, which is de novo.He also gained a duplication in chromosome 12 from me, but it does not affect me nor my younger daughter. He is smart and bright little boy, started to speak early, but he has also lots of other symptoms: joint hypermobility, low muscle tone and weakness. Although his condition is not severe, it does worry us parents, what the future holds for him. We live in UK and I have hoped to get more support from NHS with physio etc. He does have though severe inward feet., so he always wears special insoles and shoes. He is gaining more skills, but you could see that he is not as strong as other children, He tripps a lot, cannot run properly, it is harder to hold the balance etc. few days ago he fell backwards down the stairs as he did loose his balance. Luckily he is absolutely fine, but it made me look for more information how I can help my son. Please could you add me to FB group as well? firstname.lastname@example.org. thank you.
I just realized the Trisomy 5P Facebook page is a closed group. If you will email me at email@example.com with YOUR email, I will add you to the Facebook group. Tiffany
Hi All, I'll request to join the facebook page also. My son is 5p13.33 duplication in mosaic form. Look forward to connecting. Thanks, Debbie
Hi all - just checked and we have 84 members on our 5P Trisomy FB page. Lots of variation in what sort of duplications these kids have on 5P, but I recall several years ago when I thought my daughter was the only one with such a diagnosis... now look at how we've all managed to connect! Jessica - so glad to hear about your son's progress! Speech is definitely a common issue our 5P+ kids seem to share. My daughter's speech was so difficult to understand that I enrolled her in a Montessori school for the deaf and we use ASL to supplement her speech. Hope to see you all on the Trisomy 5P FB page soon!
Hi, Amy. If you haven't already done so, please join our Facebook group (search for "Trisomy 5P"). There are many families in the group that post regularly with questions, observations about their kids, etc.. It is soooo helpful to be able to connect with other parents whose kids are "puzzles". We've also posted some brochures to the Trisomy 5P FB page that were put together by Unique (research group out of the UK) on various duplicaitons of 5P. Much of the research came from questionnaires filled out by those on our FB page. You'll see that many of our kids have most of the symptoms you've described in your son. They are all unique, amazing kids and it is wonderful to have a community that understands and can celebrate your son's milestones that he acheives at his own pace. I hope to hear more from you on our FB page! Best, Tiffany
Hi there, my youngest son is 21 months. It all started From 10 days old he suffered really badly from constipation and to this day still suffers. He didn't meet any of his milestones, couldn't tolerate any solids, couldnt hold his own bottle till 12 months, crawled at 14months, still not walking, very little weight gain, to this day only says "mum,dad and car" and that's not the half of it. From 3 months old we started seeing a physio for his neck and from there we are now continuing to see a o/t speech dietitian, physio and peadiatrician. At 12months he was diagnosed with The chromesome duplication, developmental delay and hypotonia. We are also questioning whether he has autism. We have to live day by day because every day can be so different. At the moment we are told that our son is a puzzle and it's just a waiting game. It's hard. I have two older children who haven't been affected and meet all the milestones as expected. My husband and I have also been tested and we don't have the duplication. We are currently waiting on genetic councilling. With very little information out there it would be nice to connect with other families that can share their experiences.
My 15-yr old daughter and I both have interstitial dup of 5p15.1. I seem to have no symptoms; she does (heart, speech, short stature).
I am sorry to hear you are "hitting a brick wall". I know before my husband and I were tested the drs said one of Us could have it and I then it would just be "normal" for our daughter. I am not saying this to you, I think you should continue to watch your son carefully. If he does anything differently or becomes unhealthy in any way bring up the duplication. It took me two and a half years and several doctors ( multiple hospitals) to get someone to listen that my child had problems. And I needed answers and guidance. Sadly answers are hard to come by just yet. However global delay and sensory issues are probably the symptom of his duplication.I was told some things do not change until puberty. If I come across any info I will pass it along to you!
Hi. I am a mother of a 6 year old boy with interstitial duplication of 5p15.1. He has global delays with sensory issues, he is healthy. There seems to be no information anywhere on this. I also was tested and am a carrier. If anyone finds information please pass on the site. thanks
There is at least one Facebook Group for families with 5p duplications. Search FB for '5p Trisomy'. There is also a research organization out of the UK called 'Unique' that publishes info booklets about a variety of rare chromosome arrangements, including 5p plus. Try google search for '5p duplication Unique Uk'
Update: I have the same microduplication that my daughter has. I do not show any symptoms.
My daughter, previously thought to have VCFS (velocardio-facial syndrome), was just diagnosed by micro array analysis with an interstitial duplication of 5p15.1. They are testing her father and me to determine whether it is de novo or inherited. Apparently, the outcome will provide more, useful information. I will share when I have that update. I will also update this with the break points of the duplication (I think that's what I'm missing). My daughter, 10 years old now, was born with multiple heart defects (bicuspid aortic valve, stenosis of the aortic arch, VSD). She has had 5 open heart surgeries to date. She also has severe velopharyngeal insufficiency (likely will have a pharyngeal flap surgery in the near future) with hypernasal speech. She had asymmetric crying facies at birth. Her FISH tests for deletion of 22q.11 were negative. She has a sacral dimple, but MRI of spine is fine. Her gross motor skills/coordination are "off", her gait is very stiff, and she runs with her hands held up at shoulder-height. She is cognitively very sharp - age appropriate math skills - and doesn't have any problems with social cues. An MRI of her brain shows several "white spots", but nothing brought to my attention as 'significant'. I'd love to hear from anyone who knows more about this.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Created by cezuriel | Last updated 11 Apr 2016, 01:51 AM
Created by jeannebeckpulley1 | Last updated 14 Aug 2015, 01:50 PM
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.