Kagami-Ogata Syndrome (KOS) is an imprinting disorder of chromosome 14. It is characterised by a distinctive face, a
small bell-shaped thorax with a coat hanger appearance of the ribs, abdominal wall defects, placentomegally and
polyhydramnios (Ogata T & Kagami M 2016).
Like Temple syndrome (TS) this disorder involves imprinted genes at 14q32. Around 65% of cases of KOS result from
paternal UPD of chromosome 14, resulting in increased expression of paternally expressed genes (such as RTL1).
Approximately 20% of cases are due to deletion of the maternal 14q32 locus and around 15% of cases are due to gain
of methylation of the MEG3/DLK1 IG-DMR and MEG3 TSS-DMR (Soellner L et al 2017).