Table 3.
Clinical data of 22q11.2DS subjects with non-TDR deletion
| 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 |
ADHD- Attention Deficit Hyperactivity Disorder, GAD- Generalized Anxiety Disorder, MDD- Major Depressive Disorder, PTSD- Posttraumatic Stress Disorder, VSD- Ventricular Septal Defect, ASD- Atrial Septal Defect, PDA- Patent Ductus Arteriosus, PFO- Patent Foramen Ovale SA- Separation Anxiety Disorder, Psychotic dis. (NOS) - Psychotic Disorder Not Otherwise Specified.