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Table 1 General rules for the translation of the ISCN karyotypes into a simplified computer readable cytogenetic notation (SCCN) and respective examples.

From: Computer aided analysis of additional chromosome aberrations in Philadelphia chromosome positive acute lymphoblastic leukaemia using a simplified computer readable cytogenetic notation

  Designation patterns Examples
No Term a Karyotype SCCN string
Quantitative changes
1 Δ(A),Δ(B), 48,XY,+8,+9 +(8),+(9),
2 (A)Δ(xayb), 46,XX,del(1)(q32) (1)-(q32q44),
3 (A)Δ(xayb), 46,XY,dup(12)(p11p13) (12)+(p13p111),
4 (A)Δ(xayb), 46,XX,dup(2)(q11~21q35) (2)+(q111q35),
5 (A)Δ(xa)x2, 46,XY,add(15)(q26)x2 (15)-(q26)x2,
6 (A)Δ(xa),(B)Δ(xayb), 47,XX,t(9;22)(q34;q11),+der(22)t(9;22) (9)+(q34),(22)+(p13q112),
7 (A)Δ(xa),Δ(B), (B)Δ(xayb), 47,XY,+22,der(22)t(9;22)(q34;q11) (9)+(q34),+(22),(22)-(q112q13),
8 (B)Δ(yaxb), 47,XX,der(22)t(9;22)(q34;q11), +der(22)t(9;22)(q34;q11) (9)+(q34)x2,(22)-(q112q13),(22)+(p13q112),
9 (A)Δ(xayb),(A)Δ(ybxa), 46,XY,idic(16)(q22) (16)-(q22q24),(16)+(p133q22),
Qualitative changes
10 ∇ (A)(xa), 46,XX,del(1)(q32) del(1)(q32),
11 ∇ (A)(xayb), 46,XX,add(1)(q42~43) add(1)(q42q43),
Questionable changes
12 +?(A), 47,XX,+?8 +?(8),
13 (A)Δ(x?ayb), 46,XX,dup(2)(q2?1q35), (2)+(q2?1q35),
  1. aΔ = 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 rearrangement
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BMC Bioinformatics

ISSN: 1471-2105

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