Chromosome 9 P Minus Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-06-27

Study Completion Date

2026-06-30

Brief Summary

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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. Enrolled participants will be asked to complete a detailed questionnaire, complete a medical release form, and provide a biospecimen sample.

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Detailed Description

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Conditions

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Chromosome 9P Deletion Syndrome 9p Minus Syndrome Alfi Syndrome 9P Monosomy 9P Partial Monosomy Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes