Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

Table 1 Summary of karyotypes, SNP array result, ultrasound findings and pregnancy outcome

Case No	Specimen	Mechanism	Chromosome	Type	Segment	Size (Mb)	Mosaic% by SNP array	Karyotype	Origin	Indication
1	UCB	Monosomy rescue	Chr1	Mosaic UPD	p36.33q44	248.71	85	46,XX	Mitosis	Ventriculomegaly
2	AF	Monosomy rescue	Chr3	UPD	p26.3q29	197.59	100	46,XX	Mitosis	Hyperechogenic bowel
3	UCB	Monosomy rescue	Chr14	UPD	q11.2q32.33	86.49	100	46,XX	Mitosis	UMM
4	Villus	Monosomy rescue	Chr16	UPD	p13.3q24.3	90.16	100	47,XX, +20	Mitosis	IFD
4	Villus	nondisjunction	Chr20	Trisomy	p13q13.33	62.89	100	47,XX, +20	Meiosis	IFD
5	UCB	Trisomy rescue	Chr15	UPD	q22.2q26.3	39.48	100	46,XX	MI	UMM
6	UCB	Trisomy rescue	Chr15	UPD	q11.2q14	11.17	100	46,XY	MII	AMA
6	UCB	Trisomy rescue	Chr15	UPD	q21.1q23	18.64	100	46,XY	MII	AMA
7	AF	Trisomy rescue	Chr1	UPD	p36.33p13.2	115.03	100	47,XX, + mar[53]/46,XX[22]	MII	High T 21 risk
				UPD	q21.1q44	104.37	100
				DUP	p13.2p11.2	5.39	100

Results of seven cases of UPD
UCB Umbilical Cord blood, AF amniotic fluid, MI meiosis I, MII meiosis II, UMM Ultrasound multiple malformations, IFD intrauterine fetal death, AMA advanced maternal age, T trisomy

ISSN: 1755-8166