Chromosome 9 P Minus Syndrome

Launched by WASHINGTON UNIVERSITY SCHOOL OF MEDICINE · Oct 6, 2020

Keywords

ClinConnect Summary

This clinical trial is studying a rare genetic condition known as Chromosome 9P Deletion Syndrome, which affects about 200 people worldwide. Researchers want to learn more about the specific parts of chromosome 9 that are missing in affected individuals and how these deletions relate to the different symptoms (or traits) that people with this condition show. To do this, they will use advanced genetic testing methods and ask participants to fill out a detailed questionnaire, sign a medical release form, and provide a small sample of their biological material.

If you or a family member has been diagnosed with 9P Minus Syndrome, you may be eligible to participate in this study. The trial welcomes individuals with this condition, as well as their parents and siblings, to help researchers understand the genetic factors contributing to the symptoms. There are no specific exclusions for participants or their family members. If you decide to join, you’ll be contributing to important research that may help improve understanding and treatment of this rare syndrome.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Having 9P minus syndrome/ deletions on the 9th chromosome
• • Parents and siblings of affected individuals may also be included to determine contribution of genetic background to phenotypic characteristics
• Exclusion Criteria:
• • No exclusion criteria for either affected individuals or their parents or siblings.