An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis

PeerJ

article

Antonio Palazón-Bru¹  Dolores Ramírez-Prado³  Ernesto Cortés⁴  María Soledad Aguilar-Segura⁴  Vicente Francisco Gil-Guillén¹ 

[1] Department of Clinical Medicine, Miguel Hernández University;Research Unit, Elda Hospital;Clinical Analysis Department, Elda Hospital;Pharmacology, Pediatrics and Organic Chemistry Department, Miguel Hernández University

关键词: Phenotype;    Genetic association studies;    Genotype;    15q24 microdeletion;   

DOI  :  10.7717/peerj.1641

学科分类：社会科学、人文和艺术（综合）

来源: Inra

【 摘 要 】

In January 2012, a review of the cases of chromosome 15q24 microdeletion syndrome was published. However, this study did not include inferential statistics. The aims of the present study were to update the literature search and calculate confidence intervals for the prevalence of each phenotype using bootstrap methodology. Published case reports of patients with the syndrome that included detailed information about breakpoints and phenotype were sought and 36 were included. Deletions in megabase (Mb) pairs were determined to calculate the size of the interstitial deletion of the phenotypes studied in 2012. To determine confidence intervals for the prevalence of the phenotype and the interstitial loss, we used bootstrap methodology. Using the bootstrap percentiles method, we found wide variability in the prevalence of the different phenotypes (3–100%). The mean interstitial deletion size was 2.72 Mb (95% CI [2.35–3.10 Mb]). In comparison with our work, which expanded the literature search by 45 months, there were differences in the prevalence of 17% of the phenotypes, indicating that more studies are needed to analyze this rare disease.

【 授权许可】

CC BY