The deletion in patient 2 was identified using an Illumina

This cohort consisted of a subset of patients from the array cohort and similarly consented individuals. ZFPM2 sequence analyses for these individuals have not been previously published.aCGH and SNP based copy number analysesIn most cases Prada Outlet Bags Cheap Prada, chromosomal deletions and duplications were identified or confirmed by aCGH on a research basis using Human Genome CGH 244K or SurePrint G3 Human CGH 1M Oligo Microarray Kits (G4411B Cheap Prada handbags, G4447; Agilent Technologies, Santa Clara, California, USA), prepared according to the manufacturer’s protocols and analysed as previously described using individual sex matched controls with no personal or family history of CDH.7 Putative copy number changes were defined by two or more adjacent probes at 244K resolution or three or more adjacent probes at 1M resolution with log2 ratios suggestive of a deletion or duplication when compared to those of adjacent probes.In two cases patients 2 and 6 causative chromosomal deletions were identified before accrual and further aCGH testing was unwarranted based on the molecular data already available. The deletion in patient 2 was identified using an Illumina CytoSNP bead version 12.2 (Illumina Prada Outlet, Inc, San Diego, California, USA) and the deletion in patient 6 was identified and defined on a clinical basis using a 105K Combimatrix Molecular Diagnostics array (Combimatrix Molecular Diagnostics, Irvine Prada Outle, California, USA) hybridised, extracted, and evaluated according to manufacturer’s instructions.Confirmation of genomic changesChanges that were not identified in the Database of Genomic Variants were confirmed by real time quantitative PCR pradabagsuk.net, with the exception of causative changes identified in patients 3 and 7 which were confirmed by chromosome analysis, and patients 4 and 6 which were confirmed by fluorescence in situ hybridisation (FISH) analysis.Quantitative real time PCRQuantitative real time PCR (qPCR) analysis experiments were designed and carried out as previously described.7 For qPCR analysis within the ZFPM2 gene, experiments were designed in a manner similar to the standard curve method described by Boehm et al with a region of the c14orf145 gene serving as a control locus.19Chromosome analyses and FISH studiesChromosome analyses were performed for patients 3 and 7 on a clinical basis by the Molecular Genetics Laboratory at Baylor College of Medicine.

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