title: 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.
authors.affiliation: Bereich Pränatalmedizin, Klinik für Frauenheilkunde und Geburtshilfe, Universität zu Lübeck, Lübeck, Germany. jan.weichert@uk-sh.de
authors.forename: Jan
authors.initials: J
authors.lastname: Weichert
authors.forename: Andreas
authors.initials: A
authors.lastname: Schröer
authors.forename: Feriel
authors.initials: F
authors.lastname: Amari
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.forename: Almuth
authors.initials: A
authors.lastname: Caliebe
authors.forename: Inga
authors.initials: I
authors.lastname: Nagel
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Inga
authors.initials: I
authors.lastname: Mohrmann
authors.forename: Yorck
authors.initials: Y
authors.lastname: Hellenbroich
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001145:Arrhythmias, Cardiac / Q000175:diagnosis; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D017353:Gene Deletion; D040181:Genetic Diseases, X-Linked; D005838:Genotype; D005877:Gigantism / Q000175:diagnosis; D053673:Glypicans / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C105937:GPC3 protein, human; D053673:Glypicans