EP150: Mosaic 2q37 deletion detected in a neonate with IUGR and brain malformations

Abstract

The hallmark features of 2q37 deletion syndrome are 1) mild to moderate developmental delay 2) brachymetaphalangism or other skeletal anomalies of the extremities, and 3) dysmorphic facial features. Additional variable features of 2q37 deletion syndrome include congenital heart defects, autistic behavior and other behavioral abnormalities, hypotonia, seizures, structural brain abnormalities, gastrointestinal/genitourinary abnormalities and increased risk for Wilms tumor. Critical regions for brachymetaphalangism and neurologic features of 2q37 deletion syndrome have been mapped to two overlapping regions of 2q37.3.