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.

Findings

The maternal UPD7 including t

SUBMITTER: Karaca E 

PROVIDER: S-EPMC3533142 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature