Fig. 1
From: Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
G-banding karyotyping and OGM results for case 1. A Karyotype showing a 46,X,Yqh+ ,?del(21)(q21),add(22)(p13). B Circos plot from OGM indicating a translocation event involving chromosomes 3 and 21. C OGM indicating a translocation event between chromosome 3q27.1 and chromosome 21q21.2. D The red boxes show suggesting unlabeled regions at chromosome 21q21.1 in OGM. Based on the combination of OGM and karyotype results, another balanced translocation was speculated: 46,XY,t(21;22)(q21.1;p11.2). E Schematic representation of the complex rearrangements involving chromosomes 3, 21 and 22. The complex chromosomal rearrangements were defined as 46,X,Yqh+ ,t(3;21)(q27.1;q21.2),t(21;22)(q21.1;p11.2)