Table 2.
Reference and Patient Identification | Start-Stop (hg19) | Size (Mb) | Heredity | CHD (Co-Existing Cardiomyopathy) |
Other |
---|---|---|---|---|---|
Campeau et al. 2008, Patient 1 [14] | 1–10247416 | 10.2 | de novo | Asymmetric ventricles, muscular VSD, tortuous aortic arch, PDA | Hypotonia, single febrile seizure, bilateral colpocephaly, moderate to severe non-obstructive hydrocephalus, sensorineural hearing loss, short femurs, unilateral club foot, submucous cleft palate, velopharyngeal incompetence, dysmorphic features |
Zaveri et al. 2014, Patient 2 [11] | 1–3581432 | 3.6 | de novo | bicuspid aortic valve, mild aortic dilatation | Developmental delay, mild unilateral conductive hearing loss, concern for seizures |
Brazil et al. 2014, Patient 18 [15] | na | na | na | PDA, dilated aortic root and pulmonary trunk | N/A |