Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype-phenotype correlations.

ABSTRACT:

Background

Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenotypic presentation. Copy-number variations in chromosome 6, such as independent 6p deletion and 6p duplication, have been reported in several live-born infants and present widespread abnormalities such as intellectual disability, growth deficiency, developmental delay, and multiple dysmorphic facial features. However, a contiguous deletion and duplication in chromosome 6p regions have been reported in only a few cases.

Case presentation

In this study, we reported the first duplication of chromosome band 6p25.3-p22.3 with deletion of 6p25.3

SUBMITTER: Zhang L 

PROVIDER: S-EPMC10259020 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature