The Principles of Clinical Cytogenetics - Extra Materials - Springer

58 Avirachan Tharapel
nuc ish 9q34(ABL1x3),22q11.2(BCRx3)(ABL1 con BCRx2)
Here, three ABL1 and three BCR signals are present. However, two pairs of BCR/ABL1 signals are juxtaposed.
This is the pattern observed when both a t(9;22) and an additional der(22) [“Philadelphia chromosome”] are
present.
Sometimes, a rearrangement can be detected when signals that are normally juxtaposed become separated:
nuc ish Xp22.3(STSx2,KALx2)
STS and KAL are two loci on Xp22.3 that are adjacent to each other. Because they map to the same band, they
are reported within parentheses. Under normal circumstances, ish signals will appear side by side, as they do
here. However, the signals might appear to be independent of each other.
nuc ish Xp22.3(STSx2,KALx2)(STS sep KALx1)
In this example, one STS and one KAL locus are separated, most likely as the result of a rearrangement
involving this area of the X chromosome. The nomenclature term “sep” is used to designate this change.
ISCN 1995 made a good beginning concerning nomenclature for various in situ hybridization
scenarios. However, it became obvious in clinical practice that this document required substantive
revision in order to accommodate the technical explosion we are witnessing in this arena (see Chapter
17). Subtelomeric metaphase in situ hybridization, multicolor chromosome painting (M-FISH), array
CCG, dual fusion probes and break-apart probes represent some of the additions to ISCN 2005.
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