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. 2017 Sep 7;16(5):6837–6845. doi: 10.3892/mmr.2017.7438

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Copyright: © Shi et al.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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Figure 2. — Results of the SNP array, G-banded karyotyping and two-colour FISH analysis of the current patient. (A) Ideogram of chromosome 8 in the patient. Arrows indicate the location of the breakpoint. (B) A SNP array identified a deletion from 8p23.2 to 8pter in the patient. The SNP array data were analysed using ChAS 3.0 software. Both log₂ ratios and SNP genotyping calls accurately identified the location and size of the deleted region. The red box outlines the deleted region. The deleted region spanned a ~6 Mb segment with a breakpoint at ~6,004,205 bp. (C) Routine G-banded karyotyping showed a normal karyotype of 46, XY. (D) The FISH analysis showed one orange signal (probe for the sub-telomere region of chromosome 8p labelled with spectrum orange) and two green signals (probe for the centromere of chromosome 8 labelled with spectrum green) for this patient, indicating a deletion of 8pter region. SNP, single nucleotide polymorphism; FISH, fluorescence in situ hybridization (FISH).