Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more

Chromosome 14 Deletion

What is Chromosome 14 Deletion?

Chromosome 14 Deletion is a rare chromosomal disorder.

 

Chromosome 14 Deletion is a rare chromosomal disorder.
Acknowledgement of Chromosome 14 Deletion has not been added yet.
Prevalence Information of Chromosome 14 Deletion has not been added yet.
Synonyms for Chromosome 14 Deletion has not been added yet.
Cause of Chromosome 14 Deletion has not been added yet.
Symptoms for Chromosome 14 Deletion has not been added yet.
Diagnosis of Chromosome 14 Deletion has not been added yet.
Diagnostic tests of Chromosome 14 Deletion has not been added yet
Treatments of Chromosome 14 Deletion has not been added yet.
Prognosis of Chromosome 14 Deletion has not been added yet.
Tips or Suggestions of Chromosome 14 Deletion has not been added yet.
References of Chromosome 14 Deletion has not been added yet.
Son w/Chromosome 14q deltion Created by sandradee
Last updated 30 Jan 2016, 06:11 PM

Posted by DJoyBailey
30 Jan 2016, 06:11 PM

Hello! I was glad to see this community listed when I joined! After reading through all of your stories, by heart goes out to all of you, and yet I also felt somewhat comforted to read such similarities. My daughter is 11 and has 14q11.2 deletion as well as a terminal duplication on 18p 11.32 - 18q12.1 (unbalanced translocation). She has Partial Agenesis of the Corpus Collosum, Septo-Optic Dysplasia, Epilepsy (started out as complex partial seizures and has recently changed into symptomatic generalized seizures), hypopituitarism, common variable immune deficiency, neuromuscular scoliosis (had 3 spinal surgeries included fusion from T2-L5 this last March), Epstein's anomaly, bicuspid aortic valve, slightly dilated aorta, VSD and ASD, born with a choledocal cyst which was removed along with her entire bile duct and gallbladder and reconnection of the small intestine so we have several GI issues, cyclic vomiting syndrome and severe developmental/intellectual delays. Some of her issues can be connected to her partial trisomy 18, but not everything and because there isn't a lot of information on chromosome 14, it makes me wonder if her deletion is more of the cause. It sounds like we all have some in common!

Posted by sandradee
26 Aug 2010, 10:30 PM

Hi everyone, I'm so glad you all shared and so sorry I did not respond when you did. The email account I had this feed set up to send notifications to was hacked into so I no longer use it. I just came across this site again and wanted to reply. Hopefully you receive it. I completelly understand the frustration from the doctors. When Nick had his first grand mal they didn't believe me when I said it lasted 45 minutes. It had happened at night and never seeing one before I was not sure what to do. I took him to the doctor the next day and he looked at me like I was crazy. The next time it happened I called 911 and had him taken to emergency. This one lasted over 2 hours while they pumped him full of meds trying to stop it. From then on, if a seizure lasts longer than 5 minutes we go to the hospital as diastat has never worked. Nicholas' karyotype is 24.3-32.1 ~Sandra Thank you for the info on B-6. I have never heard that before but I will definately look into it. Nick can be so loving and affectionate but he has moments were he is just pure manic.

Posted by Rens
30 Sep 2009, 01:08 PM

Hi , My name is Ren and I have a nearly 6 year old daughter with a partial deletion of the 14th chromosome (14 q11.2q13). In reading each of your stories I have found some similarities and my heart goes out to all of you. Aliyah has lots of complex issues including agenesis of the corpus callossum, epilepsy (she requires resuscitation during seizures), bi-lateral vocal cord paralysis (which also causes her to stop breathing) and fluctuating muscle tone. Lately her behaviour is also an issue with her screaming for days on end. She also wakes several times a night (due both to uncontrolled movements and sleep apnoea). To fit her into a category- the doctors have labelled her as having Dyskinetic Cerebral Palsy (Dyskinesia is to do with uncontrolled movements and fluctuating muscle tone). She was in hospital for the first 3 months of her life (for her breathing) and was tube fed until she was 2 (she can now eat mash and drink from a bottle, but cannot do so independently). At 18 months she had her first seizure and required resuscitation. The doctors had never seen a seizure like it so it took them 7 months before they put her on anti-epileptics. In that time I was resuscitating her 1-18 times per day. Her first seizure med caused her to get pancreatitis and we were told she was going to die from multi organ failure. After 12 months they finally realized it was the medication and her meds were changed. Aliyah cannot speak, sit, crawl or walk. She was sitting and beginning to commando crawl when her seizures became worse and now she has lost that ability. Her muscle control is also worse- so even though she wants to sit her body doesnt allow it. Mentally- I am sure she understands and is close to her age, but physically she is like a 5-6 month old. We were told early on that Aliyah would never be mobile,see properly or feed herself- and although we still have hope (and are determined to give her every opportunity possible) we are only now coming to terms with the fact that this is probably true. Generally though, she is happy and smiley and loves contact and affection. Would love to hear more from all of you (and the exact locations of the deletions if you have that info).

View Full Thread (4 more posts)
Community Resources
Title Description Date Link
Ring 14

Ring14.net is the US version of Ring14.com, the official website in Rome, where they are currently studying this condition and the children around the world who are affected.

03/20/2017

Clinical Trials


Cords registry

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.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

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.

Community Leaders

 

Expert Questions

Ask a question

Community User List

I am a Mom to a daughter with several rare conditions....
My son and daughter were both recently diagnosed with two chromosomal disorders. They have Duplication 9q34. They also have Deletion 14q32. He is five years old and has several delays, GI issues...

 

 

I've been with my high school sweetheart since 2005. After many ups and downs of regular life, we decided to get married in 2012. It was a dream come true, but of course we were now...
I have a 12 month old boy with chromosome 14 deletion in the q arm.
I am a mom to two wonderful kids and a third grade teacher. My son has a deletion of the 14th chromosome.
I am mum to Caitlyn 23/02/09 del 14 24.1-24.2
Please see us www.ring14.net
Mother of a son born 1-7-78 with deletion of one of the long arms of the 14th chromosone
I am the proud mother of an amazing little boy, born in 1999 with the diagnosis 14q deletion syndrome. I found this site and wanted to join and meet others like us.
I am a SAHM to two girls ages 5 and 3. My youngest Makayla was diagnosed with Chromosome 14 deletion at 2 months of age.
My son, Nicholas who is 12, has a Chromosome 14q deletion (24.3-32.1). He has epilepsy, adhd with severe behavioral issues, and pdd. He also has acc, brain atrophy, a pectus excavatum, foot...
I am the mother of a 9 yr old little girl with Chromosome 14 deletion (14q13.1q13.2). She is the only one I know of with this actual deletion. I would love to meet more families with similar...

Start a Community


Don't See Your Condition On Rareshare?

Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.

FAQ


Have questions about rareshare?

Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.

Discussion Forum

Son w/Chromosome 14q deltion

Created by sandradee | Last updated 30 Jan 2016, 06:11 PM


Communities

Our Communities

Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.

FIND YOUR COMMUNITY
Physicians

Our Resources

Our rare disease resources include e-books and podcasts

VIEW OUR EBOOKS

LISTEN TO OUR PODCASTS

VIEW OUR GUIDES

Leaders

Our Community Leaders

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.