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Page history last edited by Shamel Wellington 8 years ago


Beckwith-Wiedemann Syndrome: Nature of Physical Phenomena 



According to Weksberg, Shuman, and Beckwith (2009), Beckwith-Wiedemann Syndrome (BWS) can be diagnosed using a combination of symptoms presented in table1; however, cases that present a small number of clinical features are confirmed by a positive molecular test.


The clinical diagnosis of BWS is confirmed by the identification of a CDKN1C mutation or a modified methylation, microdeletion at the imprinting center (IC) 1 and or IC2 (Weksberg et al., 2009). Nevertheless, clinical presentation should be used to diagnose a child with isolated hemihyperplasia (IH), presented with an epigenetic alteration (Weksberg et al., 2009). In Figure 2, the imprinted gene regulation of chromosome 11p15.5 is shown.


The BWS phenotype results in epigenetic modifications that are primary or genetic modifications that alter the relative influence of maternal and paternal alleles (Weksberg et al., 2009). As a result, methylation-sensitive multiplex ligation probe analysis (MS-MLPA) is used to detect DNA methylation, microduplications or microdeletions, and gene dosage alterations (Weksberg et al., 2009). However, the KCNQ1 gene is normally not detected using MLPA since it is unable to highlight changes in the DNA print digit and alterations in methylation of DNA (Weksberg et al., 2009). Therefore, karyotype analysis is used to detect strange new inversions or translocations transmitted maternally and 11p15.5 chromosome duplications from paternal origin (Weksberg et al., 2009).


Lastly, the sequencing of DNA is essential for the identification of altered genome CDKN1C related to BWS. P57kip2 of CDKN1Ctransmutations are observed periodically by 5% and in pedigrees that is autosomal dominant changed via preferred transmission specifically derived from parent by 40% (Weksberg et al., 2009). Figure 3 presents a coherent clinical method rationalized for examining the various shortcomings of the 11p15.5 chromosome.


Possibly, the cause of BWS may involve additional genomic loci. Chromosome 19 and 6 contains the NALP2 and ZFP57 genes respectively and are shown to be modulating the printing of IC2 based on current molecular research (Weksberg et al., 2009).


The development of tumor, hemihyperplasia BWS cases, positive family history, omphalocele, developmental delay, a severe BWS phenotype and subfertility or assisted reproductive technologies are clinical discoveries applicable with a molecular cause (Weksberg et al., 2009).





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