Chromosome 10q Deletion Syndrome
What is Chromosome 10q Deletion Syndrome?
Last updated 24 Jan 2012, 02:48 AM
24 Jan 2012, 02:48 AM
Hello, I am a therapist working with a 4-year-old girl in Philadelphia, PA, USA, who has this deletion -- 10 q 21 of 12 Mb, or 10 q 21.1q 22.1. Her moderate hearing loss and moderate vision loss are being addressed now, and her Physical Therapy and I think Occupational Therapy is happening. She had been viewed as having autistic characteristics, but she has been making such great progress -- attending preschool, having a structured predictable setting, and hearing and seeing better with her hearing aids and glasses -- that I question the view that she is on the (autism) spectrum, but time may tell. If you have any experience with this deletion, please write on this discussion forum. I would be very interested in learning from you. If you have *any experience with any chromosomal deletion* and can offer a family some printed or spoken resources *in MANDARIN*, that would be very much appreciated. Thank you!!! Su (QueegQueeg)
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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.
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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 QueegQueeg | Last updated 24 Jan 2012, 02:48 AM
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