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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably

Fig. 3

Results of the breakpoint sequencing analysis of the 17p13.3 duplication in members of family 2. We resized the analyzed region by applying a series of quantitative real-time PCR, followed by targeted PCR and Sanger sequencing. The duplication was 78,948 bp in size, resized genomic coordinates–(HG38) 17:1225063–1304010. The same 78,948 bp duplicated region was harbored by affected male individuals F2.1, F2.2, and unaffected female carrier F2.3

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172