Table 3.

Summary of Clinical Findings for Chromosome 1q21.1-Deleted Index Cases

359462187599
VSD indicates ventricular septal defect.
Major cardiac lesionDiscrete coarctation of aortaInterrupted aortic arch-type AInterrupted aortic arch-type B
Other cardiac lesionSubaortic membraneAortopulmonary windowVSD with muscular subaortic stenosis
Re-operationSubaortic stenosisNoneSubaortic stenosis
GenderMMM
Birth weightNormalNormalNormal
Birth lengthNormalNormalNormal
Head circumferenceNormalNormalNormal
Significant dysphagia++
Seizures+
Developmental delay+
Dysmorphic facies+