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J Med Genet 39:e16 doi:10.1136/jmg.39.4.e16
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Chromosome 10p13-14 and 22q11 deletion screening in 100 patients with isolated and syndromic conotruncal heart defects

Table 1

Frequency of 22q11 deletion in 100 CTHD patients

Isolated conotruncal defects Syndromic conotruncal defects
Primary diagnosis Number non-deleted Number deleted Number non-deleted Number deleted
TA, truncus arteriosus; DORV, double outlet right ventricle; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; PA, pulmonary atresia; PS, pulmonary stenosis.
TA 4 0 0 1
DORV 8 0 2 0
TGA 22 0 4 0
TOF 28 2 6 1
PA 14 0 3 0
PS 3 0 2 0
Total 79 2 (2.5%) 17 2 (10.5%)

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