Figure 2.

Balanced translocation by sequencing and karyotyping for subject DM17A2237. (A) Read mapping of the breakpoints for the balanced translocations. DNA fragments were compared to the reference human genome (GRCh37/hg19), and the breakpoints were shown in IGV. Twenty reads adjacent to the breakpoint were obtained. (B) Karyotype of carrier DM17A2237. Karyotype analysis was determined from G-banding analysis, following a standard protocol. The karyotype result revealed an approximate region where the breakpoint occurred. (C) PCR analysis and Sanger sequencing for validating the breakpoints. An ethidium bromide-stained agarose gel was showing the presence of two new bands created by the rearrangement of chromosomal segments at breakpoints (BP1 and BP2). BP, breakpoint; C, control; M, marker. Primer information is available in Table S1 .