Erratum.

In ISCN 2024: An International System for Human Cytogenomic Nomenclature [Cytogenet Genome Res 2024;164(suppl 1); https://doi.org/10.1159/000538512 and https://doi.org/10.1159/isbn.978-3-318-07331-7] by Hastings RJ, Moore S, Chia N (editors), the following corrections to the ISCN should be noted. Please contact the ISCN Standing Committee via the forum if you identify any additional errata.In Chapter 4, Section 4.2.1 Chromosome Abnormality Description Rules, Rule f, the lineNeoplasia: 46,XX,t(9;22)(q34;q11.2)[10]/47,XX,t(9;22),+der(22)[10]Should correctly read:Neoplasia: 46,XX,t(9;22)(q34;q11.2)[10]/47,XX,t(9;22),+der(22)t(9;22)[10]In Chapter 4, Section 4.5.3k Nomenclature for Clones, Mosaics and Chimeras, the linesRelated neoplastic clones: 46,XX,del(7)(q22),+8[10]/46,XX,i(7)(q10),+8[12]Should correctly read:Related neoplastic clones: 47,XX,del(7)(q22),+8[10]/47,XX,i(7)(q10),+8[12]Related neoplastic clones: 46,XY,del(5)(q13q31),-7[3]/46,XY,del(5)(q13),-7[17]Should correctly read:Related neoplastic clones: 45,XY,del(5)(q13q31),-7[3]/45,XY,del(5)(q13),-7[17]In Chapter 5, Section 5.5.3 Derivative Chromosomes, Rule c, example iv, the lineThe additional derivative chromosome 4 is listed before the translocation following the chromosome order rule (see Section 4.3)Should correctly read:The additional derivative chromosome 4 is listed before the translocation following the alphabetical order rule (see Section 4.3)In Chapter 5, Section 5.4.1 Specification of Chromosomes and Breakpoints, Rule eAlternatively, uncertainty of breakpoints may be indicated by a question mark (?), e.g., 1p1? (see Section 4.2.1) or by a tilde (∼), e.g., 1p34∼p35 (see Section 4.2.1)Should correctly read:Alternatively, uncertainty of breakpoints may be indicated by a question mark (?), e.g., 1p1? (see Section 4.2.1) or by a tilde (∼), e.g., 1p35∼p34 (see Section 4.2.1)In Chapter 5, Section 5.4.1 Specification of Chromosomes and Breakpoints, Rule hIf the rearrangement involves a single chromosome the breakpoints are not separated by a semicolon (;), e.g., inv(2)(p23q11.2), del(4)(p15.3p16.1), r(18)(p11.2q23)Should correctly read:If the rearrangement involves a single chromosome the breakpoints are not separated by a semicolon (;), e.g., inv(2)(p23q11.2), del(4)(p16.1p15.3), r(18)(p11.2q23)In Chapter 5, Section 5.4.2 Karyotype format for Designing Structural Chromosome Abnormalities, Rule b, example i, the textThe abnormal chromosome 11 has resulted from a complex translocation involving chromosomes 5, 8 and 11, t(5;8;11;5)(q23;q24.1;q12;q11.2)Should correctly read:The abnormal chromosome 11 has resulted from a complex translocation involving chromosomes 5, 8 and 11, der(11)t(5;11)(q11.2;q12)t(5;8)(q23;q24.1)In Chapter 5, Section 5.5.9.2 Insertion between Two Chromosomes, Rule a, the linea. Interchromosomal insertions (ins) are three-break rearrangements in which part of one chromosome is inserted at a point of breakage in the same or another chromosomeShould correctly read:a. Interchromosomal insertions (ins) are three-break rearrangements in which part of one chromosome is inserted at a point of breakage in the homologous or another chromosomeIn Chapter 5, Section 5.5.11 Isochromosomes, Rule e, example v, the noteNote: if homozygosity for the long arm of chromosome 21 is not proven, an alternative description using der(21)(q10;q10) should be used (see Section 5.5.18.3)Should correctly read:Note: if homozygosity for the long arm of chromosome 21 is not proven, an alternative description using der(21;21)(q10;q10) should be used (see Section 5.5.18.3)In Chapter 5, Section 5.5.15 Recombinant chromosomes, Rule d, example ii46,XX,rec(21)del(21)ins(21)(p13q22.2q22.3)dpator46,XX,rec(21)(pter->q22.2::p22.3->qter)dpatShould correctly read:46,XX,rec(21)del(21q)ins(21)(p13q22.2q22.3)dpator46,XX,rec(21)(pter->q22.2::p22.3->qter)dpatIn Chapter 5, Section 5.5.15 Recombinant chromosomes, Rule d, example iii46,XY,rec(1)dup(5q)ins(1;5)(q32;q11.2q22)dinh,der(5)ins(1;5)dinh46,XY,rec(1)(1pter->1q32::5q11.2->5q22::5q22->5qter)dinh,der(5)(5pter->5q11.2::5q22->qter)dinhShould correctly read:46,XY,rec(1)dup(5q)ins(1;5)(q32;q11.2q22)dinh,der(5)ins(1;5)dinhor46,XY,rec(1)(1pter->1q32::5q11.2->5q22::5q22->5qter)dinh,der(5)(5pter->5q11.2::5q22->qter)dinhIn Chapter 5, Section 5.5.16.2 Ring Chromosomes Derived from More than One Chromosome, Rule h, the line50,XX,+1,+3,+8,+r and 50,XX,+1,+3,+8,+r+marShould correctly read:50,XX,+1,+3,+8,+r and 51,XX,+1,+3,+8,+r,+marIn Chapter 6.3.4 Clonal Evolution, Rule f, example xvi, the lineAlternatively, the ISCN could be written in full for clarity:46,XY,-2,-9,add(10)(q26),del(20)(q11.2q13.3),+mar1,+mar2[15]/44,XY,-2,add(3)(p12),-5,+8,-9,-10,-del(20),+mar1[5]Should correctly read:46,XY,-2,-9,add(10)(q26),del(20)(q11.2q13.3),+mar1,+mar2[15]/44,XY,-2,add(3)(p12),-5,+8,-9,-10,del(20),+mar1[5]In Chapter 6.3.4 Clonal Evolution, Fig. 8. the line49,XY,t(9;22),+8,+19,+21Should correctly read:49,XY,+8,t(9;22),+19,+21In Chapter 6, Section 6.4 Rule g, example vi the NoteNote: the ten metaphases from the female donor also exhibit a constitutional t(2;5).Should correctly read:Note: the ten metaphases from the female donor also exhibit a constitutional t(2;15).In Chapter 7, Section 7.3.4.4.1 Single Chromosome Normal Signal Pattern, the linePDGFA probe signalShould correctly read:PDGFRA probe signalIn Chapter 7, Section 7.6 Mosaic and Chimera Signal Pattern, the line//nuc ish (DXZ1,DYZ3)×1[400]Should correctly read:nuc ish //(DXZ1,DYZ3)×1[400]In Chapter 8, Section 8.2.3 Inheritance, the lineWhen known, the parental origin of the abnormality may follow the copy number (x1,x3, etc.).Should correctly read:When known, the parental origin of the abnormality follows the copy number (x1,x3, etc.).In Chapter 8, Section 8.2.5 Mixed Cell Populations and Uncertain Copy Number, the lineix. 47,XY,+mar[5]/46,XY[20].ish der(2)(p11.2q13)(RP11-478D22+)[5]/2q12.1(RP11-478D22)×2[25].arr[GRCh38] 2p11.2q13(90,982,729_112,106,760)×3[0.2]Should correctly read:ix. 47,XY,+mar[5]/46,XY[20].ish der(2)(:p11.2q13:)(RP11-478D22+)[5]/2q12.1(RP11-478D22)×2[25].arr[GRCh38] 2p11.2q13(90,982,729_112,106,760)×3[0.2]In Chapter 10, Section 10.2, rule d, the line……and rsa[GRCh38] 22q11.21 (18,891,533_21,111,169)x2 (see Section 10.4.1).Should correctly read:……and rsa[GRCh38] 22q11.21(18,891,533_21,111,169)x2 (see Section 10.4.1).In Chapter 11, Section 11.4.1 Aneuploidy, the line[NC_000023.11:g.pter_qter=];[NC_000024.11:g.pter_qter[2]]Should correctly read:[NC_000023.11:g.pter_qter=];[NC_000024.10:g.pter_qter[2]].