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Rare Disease Daily #10: 16q24.3 Microdeletion Syndrome
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The National Center for Advancing Translational Sciences describes 16q24.3 microdeletion syndrome as a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated q24.3. Signs and symptoms may include developmental delay, characteristic facial features, seizures and autism spectrum disorder. Chromosome testing of both parents can provide more information on whether or not the microdeletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk of having an affected child with a chromosomal anomaly like a microdeletion.
The prevalence of this disease is less than one in one million, and fewer than 1,000 people in the United States have this disease. 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.
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.
This was Rare Disease Daily #10, 16q24.3 Microdeletion Syndrome
I’m yannick-robin. Thank you for your time.