Rare Disease Daily #8: 16p11.2 Duplication Syndrome
Updated: May 15
T-MINUS 293 DAYS UNTIL RARE DISEASE DAY
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.
The National Center for Advancing Translational Sciences describes 16p11.2 duplication as a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). This duplication occurs in the short (p) arm of chromosome 16 at a position known as 11.2. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms while others may have features such as low weight; small head size; behavioral problems; features of autism spectrum disorder; developmental delay; intellectual disability; and speech and language delays. This condition can occur sporadically as a de novo genetic change (by chance) or can be inherited in an autosomal dominant manner from a parent. Orphanet mentions a decreased body mass index and schizophrenia or bipolar disorder later on in life.
The prevalence of this disorder is currently unknown. A common method of detection for microduplications 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.
This was Rare Disease Daily #8, 16p11.2 Duplication Syndrome.
I’m yannick-robin. Thank you for your time.