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. Author manuscript; available in PMC: 2016 Apr 1.
Published in final edited form as: Genet Med. 2015 Jan 8;17(10):831–835. doi: 10.1038/gim.2014.189

Figure 1. Translocation Characterization and PCR Confirmation of t(6;12) (p21.1;q24.31).

Figure 1

(A) Depicting the derivative chromosomes and gene re-arrangements. The der6 allele has HNF1A exons 2 to 10 in the reverse direction and ~ 35kb of nongenic sequence from the terminus of SUPT3H. The der12 allele displays forward transcription of HNF1A ending in a large noncoding region of chr6, prior to the CDCL5 gene, which is transcribed on the opposite strand. (B) Breakpoint Characterization: There is a 2bp microhomology at the breakpoint (CA, orange), deleted in a 5bp deletion on chr6 (purple and orange underline). A 13bp deletion occurs on chr12 (purple underline), maintaining the CA microhomology. Arrows detail the breakpoint bases, with from the GRCh37 reference sequence on the side. (C) PCR Validation: Primers (6Fb and 6Rb; 12Fb and 12Rb) amplified the wild type chromosomes 6 and 12. The proband's mother (FCP638) and a Thousand Genomes sample (HG117) were also tested. Pairing primers 6Fb with 12Fb and 6Rb with 12Rb amplifies the expected translocation products in the proband.