Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
Vol. 22, No. 4, 2012, pp. 445-451
Bioline Code: pe12083
Full paper language: English
Document type: Research Article
Document available free of charge
Iranian Journal of Pediatrics, Vol. 22, No. 4, 2012, pp. 445-451
© Copyright 2012 - Iranian Journal of Pediatrics
First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients|
Karaca, Emin; Tuysuz, Beyhan; Pehlivan, Sacide & Ozkinay, Ferda
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.
Findings: 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.
Conclusion: 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.
Silver–Russell Syndrome; Maternal UPD7; Microsatellite Markers; Intrauterine Growth Retardation
Alternative site location: http://diglib.tums.ac.ir/pub/