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This study was licensed by the institutional review board for human subject research at UAB.G banded chromosome and FISH analysesG banded chromosome and FISH analyses were performed on metaphase formulations of peripheral blood lymphocytes from the patients and their parents using standard techniques. for that 1.1 Mb LCR22 D to E deletion, The BAC clone RP11 647D11 was used by the cytogenetics laboratory at UAB, Whereas the BAC clone RP11 829C4 was used by the cytogenetics laboratory at LabCorp. These clones were been thinking about from the RPCI 11 human genomic library (Empire Genomics, buffalo, ny), And the clones individual were confirmed by FISH analyses on normal metaphase spreads as well as end sequencing. These are custom designed arrays that are based on the ISCA (intercontinental Standards for Cytogenomic Arrays) consortium design. DNA was extracted from the patients peripheral blood using the Qiagen

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Blood Mini Kit (Qiagen, Valencia, ca). DNA marking, slide hybridization, rather, And scanning were performed following the manufacturer protocol. The arrays were scanned using the Agilent high resolution microarray scanner (Agilent expertise). The scanned arrays were analyzed with all the Cytogenomics v1.5 computer software program (Agilent applied sciences).SNP microarray analysis was performed by the cytogenetics research laboratory at LabCorp, Using from the Affymetrix v6.0 or the Affymetrix Cytoscan HD stand (Affymetrix, father christmas Clara, florida).

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