PMC2874679_01
Array-CGH profiles of detected chromosomal abnormalities and confirmatory FISH and MLPA analysis. The array-CGH profiles of DNA derived from three cases versus sex matched reference DNA are shown in panels A, C and E. Panels B and F show the corresponding FISH analysis for each patient, and Panel D the corresponding MLPA analysis. The x-axis displays the distance in Mb along the chromosome from the p to the q telomere, and the y-axis the log2 ratios at each locus. The red lines indicate the threshold for a deletion or a duplication (+-4DELETESD). (A) Array-CGH profile of a 7-clone deletion at 20q13.12 q13.13 in case 1. (B) Confirmatory FISH analysis of case 1 using BAC clone RP5-1049G16 (red) located in the deletion and control clone RP5-1054C24 (green). (C) Array-CGH profile of an 8-clone duplication at 17p12 p11.2 in case 2. (D) Profile from confirmatory MLPA analysis of case 2, displaying a duplication of six probes (ID 26 through 31) located in the critical region of dup(17)(p11.2p11.2) syndrome. ID 1-25 and 32-42 display chromosomal locations associated with other syndromes. (E) Array-CGH profile of a 4-clone deletion at 4q28.3 q31.21 in case 3. (F) Confirmatory FISH analysis of case 3 using BAC clone RP11-63M2 (red) located in the deletion and control clone RP11-177L7 (green).
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F1
As shown in Fig. 1A, an interstitial deletion spanning seven clones, RP5-1049G16 through RP5-1071L10, was detected at 20q13.12 q13.13, which could be verified by FISH using the two different BAC clones, RP5-1049G16 and RP5-1071L10 located at the detected breakpoints (Fig. 1B, and data not shown). Array-CGH analysis revealed a duplication spanning eight clones, RP11-219A15 through RP11-121A13, at 17p11.2 (Fig. 1C). The duplication was verified by six different probes in the SALSA MLPA kit P064 MR1 (Fig. 1D; ID 26-31), located in the critical region of the Smith-Magenis and dup(17)(p11.2p11.2) syndrome. A deletion spanning four clones, RP11-63M2 through RP11-69O1, at 4q28.3 q31.21 was identified by array-CGH, which could be verified by FISH analysis (Fig. 1E and F).