Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect

Table 2 MLPA and SNP-array results of 11 fetuses with CHD

Case	Age	Weeks of gestation	Cardiac ultrasound findings	MLPA results			SNP-array results		Type of mutation
Case	Age	Weeks of gestation	Cardiac ultrasound findings	Band	State	Probes	Positon	Size	Type of mutation
1	29	25	IAA,VSD	22q11.2	Del.	CLTCL1 ~ LZTR1	18877787 ~ 21798907	2.92 M	de novo
2	24	24	TGA, VSD	22q11.2	Del.	CLTCL1 ~ LZTR1	18877787 ~ 21462353	2.58 M	de novo
3	37	25	TA,VSD	22q11.2	Del.	CLTCL1 ~ LZTR1	18877787 ~ 21462353	2.58 M	de novo
4	23	27	TA,VSD	22q11.2	Del.	CLTCL1 ~ LZTR1	18895227 ~ 21462353	2.56 M	de novo
5	29	24	TOF	22q11.2	Del.	CLTCL1 ~ LZTR1	18877787 ~ 21462353	2.58 M	de novo
6	29	23	VSD	22q11.2	Del.	CLTCL1 ~ LZTR1	18895227 ~ 21462353	2.56 M	de novo
7	28	23	TOF, PA	22q11.2	Del.	CLTCL1 ~ DGCR8	18895227 ~ 20306993	1.4 M	inherited
8	26	23	DORV, VSD, PA	22q11.122q11.2	Del	IL17RA,SLC25A18	17067005 ~ 18047231	980 k	inherited
9	31	24	AH,VSD	22q11.2	Dup.	CLTCL1 ~ LZTR1	18623108 ~ 21462353	2.8 M	inherited
10	29	24	IAA,VSD, ASD	22q13.3	Del.	ARSA, SHANK3	49045728 ~ 51169045	2.1 M	de novo
11	26	22	DORV, VSD, PA	17p13.3	Del.	RH3AL,GEMIN4, YWHAE	18901 ~ 2633324	2.61 M	de novo

VSD ventricular septal defect, IAA interrupted aortic arch, TGA transposition of conducting arteries, TA truncus arteriosus, TOF trilogy of fallot, PA pulmonary atresia, AH aortic hypoplasia, ASD atrial septum defect, DORV double outlet right ventricle

ISSN: 1755-8166