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Table 3 Clinical data of 22q11.2DS subjects with non-TDR deletion

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

  1. 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.