Table 1

 BAC clones used for breakpoint detection in patients 1 and 2, with their name, sanger name, chromosome, start position and end position according to the NCBI 36 genome assembly

NameSanger nameChromosomeStart (base pairs)End (base pairs)Patient 1Patient 2
+, Presence of two copies; −, the BAC clone is deleted according to the array CGH profile.
RP11-103L8bA103L8126032690660482957++
RP11-96F13bA96F13126039937860556846++
RP11-402I16bA402I16126047022660639036++
RP11-196A13bA196A13126051654460670139++
RP11-15P10bA15P10126059218360768715++
RP11-542G14bA542G14126063760160804185++
RP11-155D5bA155D5126069597560861269++
RP11-120M24bA120M24126082905060980979++
RP11-97A6bA97A6126091755261052698++
RP11-169M9bA169M9126092010360948010++
RP11-467D14bA467D14126096629061162052+
RP11-142E5bA142E5126108545461271298+
RP11-151H22bA151H22126122170461367847+
RP11-570O18bA570O18126128031561431623+
RP11-131G23bA131G23126134379161525936+
RP11-538D3bA538D3126152912261684800+
RP11-24L23bA24L23126163427961805538
RP11-263K23bA263K23126170647961872677
RP11-61L21bA61L21126188323561951183
RP11-105I10bA105I10126190758662065780
RP11-52P5bA52P5126202125062183689
RP11-267F23bA267F23126203378162189805
RP11-134D22bA134D22126219668362347713
RP11-272A21bA272A21126221864162371090
RP11-415I12bA415I12126234996262538439
RP11-367H3bA367H3126247016862644125
RP11-274J7bA274J7126250819662670790
RP11-456A6bA456A6126257764962745265
RP11-196H14bA196H14126273809462928731
RP11-290I21bA290I21126285424462854997
RP11-444B24bA444B24126674090266931728
RP11-71J4bA71J4126692669367077364+
RP11-81H14bA81H14126705983167208966+
RP11-185H13bA185H13126716026767368737+
RP11-254B13bA254B13126719120767347334+
RP11-531F4bA531F4126725547167462087+
RP11-450G15bA450G15126736671067543065+
RP11-410I6bA410I6126750777367668188+
RP11-249J13bA249J13126757468367726286+
RP11-43A22bA43A22126768118067830736++
RP11-324P9bA324P9126781691468000647++
RP11-73J11bA73J11126786207268020699++
RP11-426B12bA426B12126792620368135266++
RP11-159A18bA159A18126803294068179706++
RP11-23C15bA23C15126813529168315468++
RP11-15L3bA15L3126821752468403913++
RP11-161M18bA161M18126836905168562065++
RP11-21I1bA21I1126844235368627676++
RP11-21C8bA21C8126850845868666217++
RP11-384F11bA384F11126861054068808607++
RP11-60E14bA60E14126870696068858931++