Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- Genotypic and Phenotypic Correlation
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •No exclusion criteria for either affected individuals or their parents or siblings.
结局指标
主要结局
Genotypic and Phenotypic Correlation
时间窗: As enrollment increases the team hopes to have preliminary results by 2022
By use of demographic and genetic material we hope to gain a better understanding between the deletion on the short arm of the 9th chromosome and the features presented.
次要结局
未报告次要终点