FISH analysis of distal 22q11 deletions. (A) The region of 22q11 containing LCR-A–LCR-H is shown. The LCRs are labeled and shown as black boxes. BAC and cosmid probes used for FISH analysis are shown as thick lines labeled with clone addresses. The probes deleted in CH98-18 are shown in orange and include c45c9, c11e6, and c61e11. CH98-18 was not deleted for probes proximal to LCR-D (N25, c83c5, c87f9, and c2c9), and distal to LCR-E (c102d1, c48a11, c75c12, and BCR). The probes deleted in CH03-29 are shown in blue and include c102d1, c48a11, c75c12, and BCR. CH03-29 was not deleted for probes proximal to LCR-E including c45c9, c11e6, and c61e11 and distal to LCR-F including c27d7 and b80o7. (B,C) Metaphase spreads from deletion patients hybridized with probes labeled with digoxygenin and detected with rhodamine (red signal) or labeled with biotin and detected with FITC-avidin (green). The deleted chromosome 22 is indicated by an arrow, and the normal 22 is indicated by an arrowhead. (B) CH98-18 was probed with c11e6 (red) and control probe cos82 (green). (C) CH03-29 hybridized with c102d1 (red) and control probe cos82 (green). The control cosmid probe, cos82 (D22S39), was used to label the telomeric end of chromosome 22 (22q13.3).
