Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

Table 1 Origin and (postulated) formation mechanisms of the most frequent autosomal trisomies and UPDs. (°only UPD cases with a definite classification as hUPD or iUPD from [18] are listed)

Chromosome	N=	Trisomy					N=	UPD°				Reference
		Maternal		Paternal		PZM		Maternal		Paternal
		MI	MII	MI	MII	PZM		UPhD	UPiD	UPhD	UPiD
2	18	53.4%	13.3%	27.8%		5.6%	11	45.4%	36.4%	9.1%	9.1%	Reviewed by [1, 3]
6							18	-	11.1%		88.8%	Reviewed by [3]
7	14	27.2%	25.7%			57.1%	55	61.8%	38.2%		4.3%	Reviewed by [1, 18]
7	14	27.2%	25.7%			57.1%	73	71.2%	28.8%			Own data: [11, 12]
8	12	50.0%	50.0%			50.0%	4	50.0%	25.0%		25.0%	Reviewed by [1, 3]
13	74	56.6%	33.9%	2.7%	5.4%	1.4%	10	30.0%	20.0%	10.0%	40.0%	Reviewed by [1, 3]
14	26	36.5%	36.5%		19.2%	7.7%	48	45.8%	28.8%	10.4%	17.7%	Reviewed by [1, 3]
15	34	76.3%	9.0%		14.7%		62	80.6%	6.5%	1.6%	11.3%	Reviewed by [1, 8]
16	104	100.0%					35	91.4%	5.7%		2.8%	Reviewed by [1, 3]
18	150	33.3%	58.7			8.0%	2					Reviewed by [1, 3]
20	3	2		1		-	5	60.0%	20.0%		20.0%	Reviewed by [3]
21	782	69.6%	23.6	1.7%	2.3%	2.7%	12	33.3%	33.3%		33.3%	Reviewed by [1, 3]
22	130	86.4%	10.0	1.8%		1.8%	17	52.9%	11.8%		35.3%	Reviewed by [1, 3]

ISSN: 1755-8166