AB097. Clinical and molecular characterization of patients with 6p25 deletion syndrome

Abstract

Objective Chromosomal imbalances and rearrangements have been implicated in the etiology of intellectual disability and congenital anomalies. Many of these imbalances are caused by submicroscopic deletions or duplications not detected through conventional cytogenetic analysis. The advances in technology for detecting copy number changes, most notably chromosomal microarray analysis (CMA) has allowed the detection of these submicroscopic deletions or duplications. Submicroscopic 6p25 deletion is now recognized as a clinically identifiable syndrome. Clinical features in this syndrome include intellectual disability, developmental delay, hypotonia, sensorineural hearing loss, midface hypoplasia, ocular anomalies, cardiac defects and varying central nervous system anomalies. The aim of this report is to describe the phenotypic range of individuals with 6p25 deletion syndrome in the South East Asian population.