Chromosome 9 P Minus Syndrome
Recruiting
Observational Study
Chromosome 9P Deletion Syndrome
9p Minus Syndrome
Alfi Syndrome
9P Monosomy
9P Partial Monosomy Syndrome
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 200 (estimated)
- Sponsor
- Washington University School of Medicine · Other
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About This Trial
Patients with deletion of chromosome 9 P are rare (\~200 in the medical literature) and have a diverse set of phenotypic characteristics. We propose using state of the art genome sequencing methods to define the location and size of the deleted portion of chromosome 9 P as well as the genetic background in affected patients (whole genome sequencing) and correlate the genes in the deleted portion o…
Trial Locations
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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 individ…
Contacts