Investigation for Maternal Uniparental Disomy of Chromosome 7 in a Silver Russell Syndrome patient
Silver-Russell syndrome (SRS) is a genetically heterogeneous disorder. Individuals with SRS show clinical features with varying severity. The major criteria for clinical diagnosis of SRS are intrauterine growth retardation (IUGR) accompanied with post natal growth retardation (PNGR) and relative macrocephaly, triangular face, feeding difficulties, fifth finger clinodactyly. Maternal Uniparental disomy of chromosome 7 had been implicated in 10% of SRS cases; in about 1% cases, structural chromosomal aberrations has been reported and in about 45% cases, epimutation have been detected in Imprinting control region (ICR1) of 11p region. Aetiology of remaining cases unknown. To investigate Maternal Uniparental Disomy of chromosome 7 in a Silver Russell Syndrome patient. The sample was collected of female patient suggested of SRS, clinically diagnosed with relative macrocephaly, mild facial asymmetry with postnatal growth retardation. The present study had been undertaken with an objective to detect maternal Uniparental disomy of chromosome 7 using locus specific primers to amplify STR loci by PCR. PCR products were visualized on 7.5% native Polyacrylamide Gel Electrophoresis (PAGE). On analysing the gel, matUPD7 was ruled out. Patient recruited in this study was an isolated cases with no previous incidence in the family.