Genotype-Phenotype Correlation in Patients With Chromosome 9P Minus Syndrome

What this Trial Is About

This research focuses on patients with a rare condition called Chromosome 9P Deletion Syndrome, where a part of chromosome 9 is missing. Because only about 200 cases have been reported in medical literature, the study aims to better understand the link between the specific deleted genes and the diverse physical traits seen in affected individuals. Researchers will use advanced genome sequencing techniques to analyze the size and location of the chromosome deletion and examine the genetic background of each patient. Participants will undergo whole genome sequencing to gather detailed genetic information. Alongside this, they will complete a thorough questionnaire and provide a biospecimen sample for analysis. Family members, such as parents and siblings, may also participate to help clarify how genetic background influences physical characteristics related to the condition. During the study, participants will provide medical information through questionnaires and biospecimens, which researchers will use to identify correlations between genetic changes and physical traits. The main outcome measured is the relationship between genotype and phenotype, with preliminary results expected as enrollment increases. The study is observational, and participants' involvement will mainly consist of providing samples and information for research purposes.

Chromosome 9 P Minus Syndrome