T-MINUS 268 DAYS UNTIL RARE DISEASE DAY
The National Center for Advancing Translational Sciences describes 1q21.1 microdeletion syndrome as a chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). The most common but non-constant clinical findings include abnormal smallness of the head, developmental delay or mild intellectual deficit, slight facial dysmorphic features and eye abnormalities. Autism spectrum disorders, schizophrenia or attention deficit hyperactivity disorder have been noted occasionally, according to Orphanet.
The prevalence of this disease is unknown, with its onset appearing during infancy and the syndrome only being diagnosed in 46 patients, to date. It has been identified/diagnosed using comparative genomic hybridization (CGH) microarray, is a technique used to detect chromosomal copy number changes on a high-resolution scale. It is only diagnosed through molecular cytogenetics and cannot be identified through routine chromosome analysis. Organizations like Chromosome Disorder Outreach and Unique: Understanding Rare Chromosome and Gene Disorders are helpful resources in finding communities already supporting the cause, and vetting out ways to get help that will hopefully improve the quality of life of patients and families living with the experience of this disorder.
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 offensive in the studies regarding these disorders will be neutralized to the best of my ability.
English and Spanish transcripts available at yannickmirko.com.
This was Rare Disease Daily #19, 1q21.1 Microdeletion Syndrome.
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