yannick-robin eike mirko
Rare Disease Daily #7: 16p11.2 Deletion Syndrome
Updated: May 15
The National Center for Advancing Translational Sciences describes 16p11.2 deletion syndrome as a condition caused by a missing piece (deletion) on a specific region of chromosome 16 designated as p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorder. Some affected people have minor physical abnormalities; however, signs and symptoms vary. Some affected people appear to have no physical, intellectual, or behavioral abnormalities. Most cases of 16p11.2 deletion syndrome are not inherited, although affected people can pass the condition on to their children.
The prevalence of this disease is 1-5 out of 10,000, with fewer than 200,000 people in the United States having this disease. A common method of detection for microdeletions is the fluorescence in situ hybridization (FISH), a “molecular cytogenetic technique based on fluorescently labeled DNA probes specific for a chromosomal region of interest.”
There is still a lot of research lacking in our understanding of this disorder as well as how to help those who experience it. It doesn’t matter how small the community is. One person alone deserves research and aid, so why not help these patients? To learn more, visit the links in the episode transcription and do what you can to help organizations working towards solutions through volunteering, donating, and whatever other ways you’ve got.
Rare Disease Daily aims to raise awareness for the community of approximately 30 million US citizens who experience either one or several of the over 7,000 varying rare disorders and diseases, other people like me. We desperately need your resources and help, for the sake of our basic human rights and for access equality, as well as to encourage every listener to investigate whether or not they are rare. Any language originally gendered will be neutralized to the best of my ability.