A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson–Golabi–Behmel syndrome: Report, antenatal findings and review

Abstract

Simpson–Golabi–Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of an affected fetus from 12 gestational weeks onwards, subsequently diagnosed with SGBS by molecular testing positive for GPC3 gene mutation.