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

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

Case Age Weeks of gestation Cardiac ultrasound findings MLPA results SNP-array results Type of mutation
Band State Probes Positon Size
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
  1. 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