Array-CGH and FISH analyses of patient 2. (A). An output of the clinical array-CGH (CMA V6.3) of patient 2. This profile represents the averaged combined data of hybridizations performed using reference DNA. Oligonucleotides emulating the clone RP11-17O20 (arrow) shows down displacement, indicating a loss of chromosome 21 material in the patient versus the reference DNA. (B). Representative data from metaphase FISH analysis in patient 2 and her father. The RP11-17O20 clone was used as probe (red). The green signal is a subtelomeric probe used as a control. The patient has a single red signal consistent with a deletion on 1 of the 2 copies of chromosome 21. The FISH analysis in the father shows one red signal on chromosome 21 and the second signal inserted in the long arm of chromosome 11. Reverse banding (inset) confirmed the insertion to chromosome 11.