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

Emin Karaca; Beyhan Tuysuz; Sacide Pehlivan; Ferda Ozkinay

IJ Pediatrics

The Scientific Journal of Growth & Development Research Center

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

Author(s):

Emin Karaca^1,*,

Beyhan Tuysuz²,

Sacide Pehlivan³,

Ferda Ozkinay⁴

IJ Pediatrics:Vol. 22, issue 4; 445-451

Published online:Jun 20, 2012

Article type:Research Article

Received:Dec 16, 2011

Accepted:Apr 27, 2012

How to Cite:Emin KaracaBeyhan TuysuzSacide PehlivanFerda OzkinayFirst Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients.Iran J Pediatr.22(4):445-451.

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

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