Submicroscopic copy-number variations associated with 46,XY disorders of sex development

Conclusions The results of recent studies highlight the significance of submicroscopic CNVs as the genetic basis of 46,XY DSD. Molecular cytogenetic analyses should be included in the diagnostic workup of patients with 46,XY DSD of unknown origin. Further studies using aCGH will serve to clarify novel causes of this condition.
Source: Molecular and Cellular Pediatrics - Category: Cytology Source Type: research