Table 3

Uniparental disomy associated with an isochromosome defined cytogenetically

Karyotype		UPD		Maternal UPD				Paternal UPD		Reference
Karyotype		UPD		H	I			Σ	H	Reference		I	Σ
46,XX,i(1p),i(1q)	1						1	1	42
46,XX,i(2p),i(2q)	2		1 (2q)				1 (2p)		14
46,XX,i(2p),i(2q)	2		2	2					40,44
46,XX,i(4p),i(4q)	4		1	1					43
46,X?,i(7p),i(7q)	7		2 (7q)				2(7p)		45, 46
45,XX,−8,−8,+psu dic(8)(p23.3)	8	1		1					78
(associated del(8)(p23.3pter))
46,XX,i(9p),i(9q)	9		1	1					41
45,XN,i(13q)	13		2	2		1	4	5	32, 48–53
45,XN,i(14q)	14	2	6	8			4	4	27, 32, 35, 57, 64–69
45,XN,i(15q)	15		6	6			6	6	54–63
45,XY,i(21q)	21	1	1	2			2	2	57, 71–73
45,XN,i(22q)	22		3	3			1	1	74–77
Σ		4	22	26		1	18	19

H = heterodisomy, I = isodisomy, UPD = uniparental disomy.