Table 1.

Human disease-associated inversion polymorphisms characterized in the present study

Cytogenetic location	Inversion size	Mapping (UCSC May 2004)	Disease-causing rearrangement at location
3q29	1.9 Mb	chr3:196886879–198874600	3q29 microdeletion syndrome
8p23	4.7 Mb	chr8:7225962–12487029	inv dup(8p), +der(8)(pterp23.1::p23.2-pter) and del(8)(p23.1;p23.2)
15q13.3	2 Mb	chr15:28524207–30602466	15q13.3 microdeletion (mental retardation, epilepsy, schizophrenia and autism)
15q24	1.2 Mb	chr15:72151413–73356183	15q24 microdeletion syndrome
17q12	1.5 Mb	chr17:31888441–33393152	RCAD syndrome
17q21.31	900 kb	chr17:40899921–41989253	17q21.31 microdeletion syndrome