. 2015 May 20;14(5):369–379. doi: 10.1093/bfgp/elv020

Table 1.

Human polymorphic inversions predisposing to other rearrangements

Cytogenetic band	Inversion (InvFEST)	Inversion length	Secondary arrangement	Disorder	References
3q29	HsInv0264	1.9 Mb	Deletion	3q29 microdeletion syndrome	[27]
4p16	HsInv0472	6 Mb	t(4;8)(p16;p23)	Wolf-Hirschhorn syndrome	[26]
5q35	HsInv0687	1.9 Mb	Deletion	Sotos syndrome^a	[90]
7q11.23	HsInv0301	1.5 Mb	Deletion	Williams-Beuren syndrome (WBS)^a	[29, 88]
8p23.1	HsInv0501	4.5 Mb	Deletions/Duplications	Mental retardation and other problems	[92]
8p23.1	HsInv0501	4.5 Mb	t(4;8)(p16;p23)	Wolf-Hirschhorn syndrome	[26]
15q11-q13	HsInv0549	4 Mb	Deletion	Angelman syndrome^a	[89]
15q13.3	HsInv1049	1.8 Mb	Deletion	15q13 microdeletion syndrome	[93]
15q24	HsInv0544	1.2 Mb	Deletion	15q24 microdeletion syndrome	[27]
17q12	HsInv1048	1.5 Mb	Deletion	RCAD syndrome	[27]
17q21.31	HsInv0573	970 kb	Deletion	17q21.31 microdeletion syndrome^a	[91]
Xq28	HsInv0389	48 kb	Deletion	Emery-Dreifuss muscular distrophy (EMD)	[28]
Yp11.2	HsInv0415	4 Mb	PRKX/PRKY translocation	Sex reversal/male infertility	[94]

^aDisorders in which a higher frequency of the inversion has been found in the transmitting parents of the affected individuals compared with the general population.