Chromosome 6q Deletion Syndrome
What is Chromosome 6q Deletion Syndrome?
Chromosome 6q Deletion Syndrome is a rare chromosomal disorder resulting from the deletion of a part of the long arm (q) of chromosome 6.
Last updated 26 Nov 2015, 03:22 PM
26 Nov 2015, 03:22 PM
Hi!! Iused the email you provided, however, it said the email is invalid?? I checked the spelling, and it still won't work. Please email me at kklawitter2535@gmail.com. Looking forward to hearing from you!!!
26 Nov 2015, 02:27 AM
To Katechipman Thank you for your reply. My name is Marie-France, but please call me MF. I have been waiting quite a while for someone to make a post. Will gladly share all that I can. Please contact me at MFNolet@Outlook.com. I am amazed that they diagnosed at such an early age, that's wonderful to know that testing is being done and recognized. I look forward to connecting with you.
25 Nov 2015, 06:10 AM
Hi. I am a 37 yr old mom to a wonderful 7 week old daughter. This post is directly towards mfnolet. My daughter has Chromosome 6q deletion also, and I cannot believe your son has the same exact deletion sequence as my daughter, the 6q14.1-q15, and hers is also interstitial. I have her first genects appt next week, so I'm not sure what to expect. She had the Chromosome study done in the hospital, and that's what it came back as. How is your son doing? How are you making out, and would like to talk more with you about his progress if that is OK.I find it interesting you just found out at his age. I am new to all this , so anything you can share with me, would be so great!! Thank you so much.
| Title | Description | Date | Link |
|---|---|---|---|
| Wrongdiagnosis.com |
Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material. More detailed information about the symptoms, causes, and treatments of Chromosome 6q deletion syndrome is available below. |
03/20/2017 | |
| Chromosome Disorder Outreach |
Chromosome Disorder Outreach, Inc. is a non–profit organization, founded, supported, and run by parents just like you. Our children are affected by a wide range of chromosome disorders, including deletions, duplications, trisomies, inversions, translocations, and rings. Sometimes these disorders are so unusual that doctors tell us, "You’re the only one out there." But now using our newly introduced web application we have the capability to specifically categorize chromosomal karyotypes and finally begin to understand more about the genes involved in each rare chromosome rearrangement. We hope to eventually improve specifically tailored treatments to help affected individuals |
03/20/2017 |
Clinical Trials
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.
- Complete the screening form.
- Review the informed consent.
- 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.
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Created by mfnolet | Last updated 26 Nov 2015, 03:22 PM
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