First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients

AUTHORS

Emin Karaca 1 , * , Beyhan Tuysuz 2 , Sacide Pehlivan 3 , Ferda Ozkinay 4

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How to Cite: Karaca E, Tuysuz B, Pehlivan S, Ozkinay F. First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients , Iran J Pediatr. 2012 ; 22(4):445-451.

ARTICLE INFORMATION

Iranian Journal of Pediatrics: 22 (4); 445-451
Published Online: June 20, 2012
Article Type: Research Article
Received: December 16, 2011
Accepted: April 27, 2012
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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.

 

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  • © 2012, Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
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