Ontology highlight
ABSTRACT:
SUBMITTER: van der Werf IM
PROVIDER: S-EPMC5117931 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
van der Werf Ilse M IM Buiting Karin K Czeschik Christina C Reyniers Edwin E Vandeweyer Geert G Vanhaesebrouck Piet P Lüdecke Hermann-Josef HJ Wieczorek Dagmar D Horsthemke Bernhard B Mortier Geert G Leroy Jules G JG Kooy R Frank RF
European journal of human genetics : EJHG 20160713 12
In approximately 20% of individuals with Kagami-Ogata syndrome (KOS14, MIM 608149), characterized by a bell-shaped thorax with coat-hanger configuration of the ribs, joint contractures, abdominal wall defects and polyhydramnios during the pregnancy, the syndrome is caused by a maternal deletion of the imprinted gene cluster in chromosome 14q32.2. Most deletions reported so far included one or both of the differentially methylated regions (DMRs) - DLK1/MEG3 IG-DMR and MEG3-DMR. We present two unr ...[more]