Rare Disease Daily #4: 15q11.2 Microdeletion

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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, including myself. 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 15q11.2 microdeletion refers to a chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. The Online Mendelian Inheritance in Man of John Hopkins Uni, describes behavioral psychiatric manifestations as: autism spectrum disorder, obsessive-compulsive disorder, attention deficit-hyperactivity, and an overall ‘happy demeanor’.

The prevalence of this disorder is currently unknown. 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.

This was Rare Disease Daily #4, 15q11.2 Microdeletion.

I’m yannick-robin. Thank you for your time.

Resources:

• Everylife Foundation for Rare Diseases

• Genetic Alliance

• Global Genes: Allies in Rare Disease

• National Organization for Rare Disorders and Diseases

• National Center for Advancing Translational Sciences

• RareSource