Rare Disease Daily #9: 16p13.11 Microduplication Syndrome
T-MINUS 290 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 names it a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by (the duplication of 16p13.11 being doubled in a new event within the person) interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechanism is a form of homologous recombination that occurs between two lengths of DNA that have high sequence similarity, but are not alleles non-allelic homologous recombination. The microduplications appear from the beginning/de novo or are inherited from mildly affected or completely normal parents, suggesting that the microduplication has incomplete penetrance and variable expressivity. As the duplication is present in a way that relates to the physical characteristics of something living/phenotypically within normal parents of patients, as well as in the general population, the clinical significance of the 16p13.11 microduplication is still unclear.
The prevalence of this disorder is currently unknown, it has been clinically and molecularly characterized in fewer than 20 patients. A common method of detection for microduplications is (FISH), a “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 #9, 16p13.11 Microduplication Syndrome
I’m yannick-robin. Thank you for your time.