From: Genotype-phenotype correlation in 22q11.2 deletion syndrome
ID | Age at diagnosis [years] | Deletion | Psychiatric diagnoses | Cardiovascular anomalies | Facial dysmorphology | Palate abnormality |
---|---|---|---|---|---|---|
VC671 | 16 | LCR A-B (~1.5 Mb) | MDD GAD | No | Eyes, ears, chin, nose | Cleft palate |
VC672 | 46 | LCR A-B (~1.5 Mb) | Schizoaffective disorder | No | Chin | No |
VC1081 | 7 | LCR A-B (~1.5 Mb) | ADHD | No | Mouth, ears, chin, nose, face | Occult submucous cleft palate |
VC1161 | 13 | LCR A-B (~1.5 Mb) | ADHD | PDA, bicuspid aortic valve | Eyes, mouth, ears, chin, nose, face | Hypernasal speech |
VC171 | 40 | LCR A-C (~2 Mb) | MDD, Specific phobia, PTSD | PFO, hemitruncus atresia of Rt pulmonary, high origin of Lt pulmonary artery from ascending aorta with big Lt to Rt shunt. | Eyes, mouth, ears, nose, face | No |
VC201 | 13 | LCR A-C (~2 Mb) | ADHD, Specific phobia | Rt aortic arch with aberrant left subclavian. Vascular ring - diagnosed at birth. | Eyes, mouth, ears, nose, face | Occult submucous cleft palate |
VC641 | 7 | LCR A-C (~2 Mb) | ADHD | VSD, ASD - spontaneous closure, aplastic Rt carotis and medial Lt upper carotis | Ears | Occult submucous cleft palate |
VC871 | 8 | LCR A-C (~2 Mb) | ADHD | No | Eyes, ears, nose, face | Occult submucous cleft palate |
VC431 | 10 | LCR A-D+ | ADHD, OCD | Small VSD- spontaneously closed. Aberrant Rt. subclavia from descendent aorta | Eyes, mouth, ears, chin, nose, face | Occult submucous cleft palate |
VC511 | 9 | LCR A-D+ | ADHD, Specific phobia | Two small VSDs | Eyes, mouth, ears, chin, nose | Occult submucous cleft palate |
VC741 | 11 | LCR A-D+ | ADHD | ASD spontaneously closed, abnormal aortic valve. | Eyes, mouth, ears, chin, nose, face | Occult submucous cleft palate |
VC1621 | 15 | LCR A-D+ | ADHD, MDD | Bicuspid aortic valve | Eyes, mouth, face | Occult submucous cleft palate |
VC901 | 20 | LCR B-D+ | Psychotic dis. (NOS), ADHD, GAD, SA, Specific and Social phobia | VSD | Eyes, mouth, chin, nose, face | Cleft lip and palate |