Fig. 2.
FISH analysis using the RP11-138C22 probe to confirm an atypical 22q11.2 deletion. Fluoresence in situ hybridization (FISH) validation of the RP11-138C22 probe to detect atypical 22q11DS deletions. A control individual (a) showing two copies of chromosome 22q11 using the RP11-138C22 probe. Individuals 1 (b) and 23 (c) are negative by FISH analysis for the TUPLE1 probe but are positive for the deletion using the RP11-138C22 probe due to the extent of their deletion, which was confirmed by qPCR analysis (Fig. 1)