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9p Minus Syndrome clinical trials

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NCT ID: NCT04586400 Recruiting - Alfi Syndrome Clinical Trials

Chromosome 9 P Minus Syndrome

Start date: June 27, 2017
Phase:
Study type: Observational

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 of chromosome 9 P with specific phenotypic characteristics of each patient assessed by a an updated, more detailed questionnaire.