Table 3.

Overview of genomic alterations detected by array-CGH

AlterationL1231*L1857M-01
Loss
    9q22.33-q32.2RP11-66O2 > > RP11-30L4 (∼20.6 Mb)RP11-141J10 > > RP11-143H20 (∼60.3 Mb)None
RP11-23J9 > > RP11-417B4 (∼27.9Mb)
    10 pter-p14GS-23B11 > > RP11-730A19 (∼11.8 Mb)NoneNone
    20pter-p11.1GS-1061L1 > > RP11-348I14 (∼28.2 Mb)RP11-314N13 > > RP11-504H3 (∼18.1 Mb)RP4-741H3 > > RP11-504H3 (∼13.4 Mb)
    20q11-12RP5-1161H23 > > RP11-122O1 (∼4.7 Mb)NoneNone
RP1-138B7 > > RP5-1028D15 (∼1.8 Mb)
Gain
    20pNoneNoneRP5-1096J16 > > RP5-1025A1 (∼5.1Mb)
    20qRP3-324O17 > > RP5-914B9 (∼3.1 Mb)RP3-324O17 > > RP5-994O24 (∼20.1 Mb)RP3-324O17 > > RP5-994O24 (∼20.1 Mb)
RP4-600E6 > > RP1-232N11 (3.1 Mb)
RP4-781B1 > > RP5-994O24 (∼7.3 Mb)
    22qRP11-155F20 > > CTA57G9 (∼8.5 Mb)RP11-155F20 > > CTA57G9 (∼8.5 Mb)RP11-155F20 > > CTA57G9 (∼8.5 Mb)
  • * Array-CGH results of this case have been described in ref. (18).