PT - JOURNAL ARTICLE AU - I K Temple AU - V Shrubb AU - M Lever AU - H Bullman AU - D J G Mackay TI - Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14 AID - 10.1136/bcr.06.2009.1997 DP - 2009 Jan 01 TA - BMJ Case Reports PG - bcr0620091997 VI - 2009 4099 - http://casereports.bmj.com/content/2009/bcr.06.2009.1997.short 4100 - http://casereports.bmj.com/content/2009/bcr.06.2009.1997.full AB - The clinical phenotypes of maternal and paternal uniparental disomy of chromosome 14 (UPD14) are attributed to dysregulation of imprinted genes. A large candidate locus exists within 14q32, under the regulation of a paternally methylated intergenic differentially methylated region (IG-DMR). We present a patient with clinical features of maternal UPD14, including growth retardation, hypotonia, scoliosis, small hands and feet, and advanced puberty, who had loss of methylation of the IG-DMR with no evidence of maternal UPD14. This case provides support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32.