Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes

Table 1 Summary of patients with aneuploid UPD-IDs in this study

Chromosome	IDs associated with maternal UPD	Number of patients	IDs associated with paternal UPD	Number of patients
6	UPD(6)mat	2	UPD(6)pat	1
6		(Hetero: 2)	Transient neonatal diabetes mellitus	(Iso: 1)
7	UPD(7)mat	25^a	UPD(7)pat	1
7	Silver-Russell syndrome	(Hetero: 17, Iso: 8)		(Iso: 1)
14	UPD(14)mat	18^b	UPD(14)pat	27^c
14	Temple syndrome	(Hetero: 15, Iso: 3)	Kagami-Ogata syndrome	(Hetero: 10, Iso: 17)
15	UPD(15)mat	48^d	UPD(15)pat	2
15	Prader-Willi syndrome	(Hetero: 44, Iso: 4)	Angelman syndrome	(Iso: 2)
20	UPD(20)mat	6^e	UPD(20)pat	0
20		(Hetero: 5, Iso: 1)	Pseudo hypoparathyroidism 1B
Total		Hetero: 83, Iso: 16		Hetero: 10, Iso: 21

	Maternal UPD subtype		Paternal UPD subtype		Total
UPD-IDs caused by aneuploid oocytes	heterodisomy	83	isodisomy	21	104
UPD-IDs caused by aneuploid sperms	isodisomy	16	heterodisomy	10	26

UPD, uniparental disomy; IDs, imprinting disorders; UPD-IDs, uniparental disomy-mediated imprinting disorders; Hetero, heterodisomy; Iso, isodisomy; UPD(6)mat, maternal uniparental disomy of chromosome 6; UPD(6)pat, paternal uniparental disomy of chromosome 6; UPD(7)mat, maternal uniparental disomy of chromosome 7; UPD(7)pat, paternal uniparental disomy of chromosome 7; UPD(14)mat, maternal uniparental disomy of chromosome 14; UPD(14)pat, paternal uniparental disomy of chromosome 14; UPD(15)mat, maternal uniparental disomy of chromosome 15; UPD(15)pat, paternal uniparental disomy of chromosome 15; UPD(20)mat, maternal uniparental disomy of chromosome 20; UPD(20)pat, paternal uniparental disomy of chromosome 20
^a9 out of 25 UPD(7)mat patients were reported by Fuke et al. [20]
^b17 out of 18 UPD(14)mat patients were reported by Kagami et al. [22]
^c19 out of 27 UPD(14)pat patients were reported by Kagami et al. [21]
^d27 out of 48 UPD(15)mat patients were reported by Matsubara et al. [17]
^e5 out of 6 UPD(20)mat patients were reported by Kawashima et al. [23]

ISSN: 1868-7083