VI-II.1 VI-II.2 VI-II.3 VI-II.4 VI-II.5

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VI-II.1 VI-II.2 VI-II.3 VI-II.4 VI-II.5 Figure e-1: FISH images of lymphoblast cells of individuals from family VI carrying a the APP-locus duplication. VI-II.1 RP11-15D13 CTB-63H24 VI-II.2 RP11-15D13 CTB-63H24 VI-II.3 RP11-15D13 CTB-63H24 VI-II.4 RP11-15D13 CTB-63H24 VI-II.5 RP11-15D13 CTB-63H24 Interphase FISH analysis of APP duplication. RP11-15D13 containing the 5’-end of the APP gene was labeled in Cy3-dUTP (red) and CTB-63H24 containing the telomere of chromosome 21 was labeled in FITC-dUTP (green). With the exception of #118 (VI-II.5) all subjects show evidence for an APP duplication. #116 (VI-II.4) represents the individual carrying three copies of APP but without clinical evidence for AD at last examination (see Fig. 1).