Citation purposes)BMC Bioinformatics 2003,http://www.biomedcentral.com/1471-2105/4/Table 1: General rules for the translation of the ISCN karyotypes into a simplified computer readable cytogenetic notation (SCCN) and respective examples.Designation patterns No Quantitative changes 1 2 3 4 5 6 7 8 9 Qualitative changes 10 11 Questionable changes 12 13 Terma KaryotypeExamples SCCN string(A),(B), (A)(xayb), (A)(xayb), (A)(xayb), (A)(xa)x2, (A)(xa),(B)(xayb), (A)(xa),(B), (B)(xayb), (B)(yaxb), (A)(xayb),(A)(ybxa), (A)(xa), (A)(xayb), +?(A), (A)(x?ayb),48,XY,+8,+9 46,XX,del(1)(q32) 46,XY,dup(12)(p11p13) 46,XX,dup(2)(q11 21q35) 46,XY,add(15)(q26)x2 47,XX,t(9;22)(q34;q11),+der(22)t(9;22) 47,XY,+22,der(22)t(9;22)(q34;q11) 47,XX,der(22)t(9;22)(q34;q11), +der(22)t(9;22)(q34;q11) 46,XY,idic(16)(q22) 46,XX,del(1)(q32) 46,XX,add(1)(q42 43) 47,XX,+?8 46,XX,dup(2)(q2?1q35),+(8),+(9), (1)-(q32q44), (12)+(p13p111), (2)+(q111q35), (15)-(q26)x2, (9)+(q34),(22)+(p13q112), (9)+(q34),+(22),(22)-(q112q13), (9)+(q34)x2,(22)(q112q13),(22)+(p13q112), (16)-(q22q24),(16)+(p133q22), del(1)(q32), add(1)(q42q43), +?(8), (2)+(q2?1q35),a = plus sign (+) or minus sign (-); A, B = chromosome numbers; x, y = chromosome p-, q-arm; a, b = chromosome band or subband; = ISCN abbreviation of the type of the rearrangementevery fitting string was counted in a new result table referring to the protrusive sign. Single or multiple changes of a chromosome were counted by adding the respective number of gains or losses Pamapimod structure PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/26080418 to each of the (sub-)bands of the respective chromosome. The distribution of the qualitative changes was analysed for each chromosome by recording and counting the involved chromosome (sub)band(s) and the respective type of the rearrangement. Generally, chromosome rearrangements, which lacked a resolution at subband level and as well ranges of possible chromosome breakpoints were recorded by adding one change to each possibly involved chromosome subband. Of each chromosome, the incoming datasets containing the karyotypes and the SCCN translation as well as the processed data containing the extracted SCCN strings and the number of events recorded in each chromosome (sub)band were stored to check the results chromosome by chromosome to identify mistakes at each level of the process. Strings which did not apply to the established SCCN as well as parts of aberration strings containing question marks were excluded from the analysis and stored in error tables for revision. For each chromosome, the results of the analyses were presented as a table with the summed up changes in the order of the respective position on the chromosome. For direct visualisation of the distribution of the alterations within one chromosome, a graph was generated that showed the number of changes of each chromosome band as bars projecting onto the bands of the respective chromosome ideogramrelative to the maximum value achieved in this chromosome.Definition of a simplified computer readable cytogenetic notation The terms and symbols used for the simplified computer readable cytogenetic notation (SCCN) were taken from the ISCN 1995. All changes were recorded on the basis of a maximum resolution of 400 bphs. The information contained in the karyotypes of the stem line and sub clones of each case was summarized and splitted into the quantitative, e.g., gains and losses, and qualitative elements, e.g., the breakpoints and types of rearrangements of the chromosome changes. For better clearness quantit.
