6533b838fe1ef96bd12a520d

RESEARCH PRODUCT

Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis

subject

description

Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defect and developmental delay. Genotype –phenotype correlations of previously published patients have been strongly suggested anterior eye segment anomalies as one of major malformation of the syndrome if the critical 6p25 region containing the FOXC 1 gene. In addition it has been hypothesized the presence in this region of one or more genes involved in hearing loss. We report on a case of terminal 6p deletion in a 47, XYY karyotype. Further characterization of the deletion with array comparative genome hybridization revealed also a cryptic microduplication on chromosome 19. The patient showed dysmorfic features, neuromotor retardation and profound language impairment, in absence of hearing loss and structural eye anomalies. As far as we know this is the first reported terminal 6p25.1 deletion case without eye dysgenesis precisely characterized by array-CGH. Our result could confirm that no genes in this region could be considered as an obvious candidate for hearing loss and demonstrate the need for further elucidation about function of the genes involved in eye developmental processes.