yannick-robin eike mirko
Rare Disease Daily #6: 15q24 Microdeletion Syndrome
Updated: May 12
Orphanet describes 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.
The prevalence of this disorder is less than one out of one million, with 19 cases being reported, according to Orphanet. Diagnosis includes Oligonucleotide array CGH (aCGH) with confirmation by fluorescent in-situ hybridization (FISH) which detects most, if not all, deletions of 15q24. Karyotypes are typically normal.
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 #6, 15q24 Microdeletion Syndrome.
I’m yannick-robin. Thank you for your time.