title: First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.
abstract: OBJECTIVE
  Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation, and typical characteristic facial dysmorphisms. It has been associated with maternal uniparental disomy (UPD) for chromosome 7 and hypomethylation of imprinting control region 1 (IGF2/H19) in 11p15. UPD refers to the situation in which both copies of a chromosome pair have originated from one parent. UPD can be presented both as partial heterodisomy and isodisomy. The aim of this study was to determine the maternal UPD7 (matUPD7) in 13 Turkish SRS patients.
  
  
  METHODS
  Genotyping for matUPD7 was performed with microsatellite markers by polymerase chain reaction.
  
  
  RESULTS
  The maternal UPD7 including the entire chromosome was identified in 1/13 (7.6%) of individuals within SRS patients. There were no significant differences between clinical features of matUPD7 case and other SRS cases except congenital heart defects.
  
  
  CONCLUSIONS
  It is often difficult to establish diagnosis of a child with intrauterine growth retardation (IUGR), growth failure and dysmorphic features. Thus, screening for matUPD7 in IUGR children with growth failure and mild SRS features might be a valuable diagnostic tool.
authors: Department of Genetics, Ege University Medical Faculty, Izmir, Turkey.
authors: Emin
authors: E
authors: Karaca
authors: Beyhan
authors: B
authors: Tuysuz
authors: Sacide
authors: S
authors: Pehlivan
authors: Ferda
authors: F
authors: Ozkinay
keywords: Intrauterine Growth Retardation; Maternal UPD7; Microsatellite Markers; Silver–Russell Syndrome