Detection of chromosome microdeletion and microduplication by FISH

(a) Three FISH probes identify genes A, B, and C. (b) Microdeletion of a chromosome segment containing B prevents probe hybridization. (c) Microduplication results in hybridization of probe B to duplicated genes(a) Three FISH probes identify genes A, B, and C. (b) Microdeletion of a chromosome segment containing B prevents probe hybridization. (c) Microduplication results in hybridization of probe B to duplicated genes

(a) Wild—type chromosome m l l l FISH probes A B C (b) Microinterstitial deletion m 1 $ l A B C No fluoresence detected from robe B. (c) Microduplication p M l V l A B__ C Two fluorescent spots indicate the target of probe B is duplicated.