search
for
 About Bioline  All Journals  Testimonials  Membership  News  Donations


Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
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

 en First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients
Karaca, Emin; Tuysuz, Beyhan; Pehlivan, Sacide & Ozkinay, Ferda

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.
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.

Keywords
Silver–Russell Syndrome; Maternal UPD7; Microsatellite Markers; Intrauterine Growth Retardation

 
© Copyright 2012 - Iranian Journal of Pediatrics
Alternative site location: http://diglib.tums.ac.ir/pub/

Home Faq Resources Email Bioline
© Bioline International, 1989 - 2017, Site last up-dated on 05-Dec-2017.
Site created and maintained by the Reference Center on Environmental Information, CRIA, Brazil
System hosted by the Internet Data Center of Rede Nacional de Ensino e Pesquisa, RNP, Brazil