PMC4510909_01
a Partial karyotype showing comprehensive characterization of the balanced rearrangement involving chromosome 13 and 15 in the father of the proband using various FISH probes as indicated in the figure. The paternal karyotype was thus redefined as 46,XY,t(13;15)(p11.2;q13.2). b Schematic diagram showing deleted region (DT1) harbouring various genes that were absent in the proband. Abbreviations: BP-Break point, IC-Imprinting Center, DT1-deletion type-1, DT2-deletion type-2
13039_2015_163_Fig1_HTML.jpg
PMC4510909_01_13039_2015_163_Fig1_HTML.jpg
Fig1
This substantiated that the sSMC was a "by-product" of a balanced paternal translocation involving one chromosome 13 and 15 and mimicking a Robertsonian translocation.Breakpoints were located in 13p11.2 and 15q13.2 region and the karyotype was redefined as 46,XY,t(13;15)(p11.2;q13.2) (Fig. 1a).