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. 2003 May 9;72(6):1578–1584. doi: 10.1086/375695

Figure 3.

Figure 3

FISH validation experiments. FISH validation experiments were performed for patients 15 (A) and 18 (B). The original karyotype of patient 15 is 46,X,del(X)(q21.2),der(18)t(X:18)(q21.1;q22), and that of patient 18 is 46,XY,der(7)t(7;18)(q36.1;q23),der(18)(pter-q23::p11.2-pter). A, The deleted 18q22.3 clone RP11-90L15 is labeled in red, the normal 18q21.33 clone RP11-75O12 in green. The normal chromosome 18 contains both clones in the correct order, whereas, on the derivative chromosome 18, only clone RP11-75O12 is present, thus confirming the unbalanced translocation as identified by both arrayCGH and karyotyping. B, The deleted 18q22.3 clone RP11-90L15 is labeled in green, the normal 18q23 clone RP11-91C19 in red. The normal chromosome 18 contains both clones in the correct order, whereas, in the derivative chromosome 7, only clone RP11-91C19 is present. The deletion is visible both in metaphase and in interphase (inset), thus confirming the unbalanced translocation as identified by arrayCGH but not by karyotyping.