Microdeletion found by array-CGH in girl with Blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25)

Abstract

The novel deletion found could be involved in FOXL2 regulation and constitutes the smallest deletion described in a female with BPES. In cases of "de novo" apparently balanced translocation, only a 5-6% risk of phenotype alteration is described. Molecular studies can help to discover these alterations and provide insight for genetic counseling.