Researchers at the University of Michigan in Ann Arbor, MI, USA, are conducting research on
Complete Trisomy 5p. Their aim through this research is to improve the lives of children, young adults, and families affected by Complete Trisomy 5p by helping to coordinate scientific research
that leads to a better understanding of how this disorder affects them.

The purpose of the study is to gather medical information to create a comprehensive
repository of information regarding the presentation and complications associated with
this disorder. The study team is requesting medical history from the participating
families. Prior genetic testing results will be requested. Parents may be asked to sign
medical release to access prior hospitalization records, if applicable/needed.

Why Should I Participate?

  • With so little currently known and understood about complete trisomy 5p, the data in a
    natural history study can provide a very helpful resource to physicians that can
    potentially help find better treatments.
  • A natural history study is the best way to study traits of individuals affected by Complete
    Trisomy 5P, and how these traits progress over time.
  • A natural history study can help identify and prioritize areas of focus for future research.

If you decide to participate, you will be required to provide the result of the genetic
testing that confirmed the diagnosis of complete (whole p arm) trisomy 5p. After that is
provided, you will be asked to provide information about the health of the affected
individual, along with information regarding development and cognition.
If you would like to participate, please email the following address to request an
informed consent document:

Email address:

Once the informed consent document is signed and returned, you will receive, via email,
a link to the REDCap database website, where you may fill out the surveys/provide
information, at your own pace. Thank you!