Table 6 Medial comorbidities in individuals with nested deletion or duplication of 22q11.2

 Audiogram

11

4

14

8

4

2

 Abnormal

6

1

2

2

0

1

 Abnormal Rate^a

55%

25%

14%

25%

0%

50%

 Abnormalities

CHL

CHL

SNHL

CHL, CSNHL

n/a

CHL

 Echocardiogram

9

4

11

5

2

1

 Abnormal

7

3

7

1

1

0

 Abnormal Rate^a

64% (78%)

75%

50% (64%)

12% (20%)

25% (50%)

0%

 Abnormalities

Enlarged PA, VR, PS, TOF with PS, IAA with ARSCA, TR, PDA

TA, RAA with ALSCA, dilated aortic root, VR, ASD/VSD

Aortic root dilation, aneurism of TV, ASD, PDA, PFO, TA, VSD

PFO

TOF with pulmonary valve stenosis

n/a

 Bloodwork

11

4

14

4

4

1

 Abnormal

6

2

6

2

0

0

 Abnormal Rate^a

55%

50%

43%

25% (50%)

0%

0%

 Abnormalities

Hypocalcemia hypothyroidism low vitamin D (each category n = 2)

Hypocalcemia

Hypocalcemia (n = 2), diabetes mellitus, borderline HbA1C, low growth factors, low vitamin D, hypothyroidism

Borderline abnormal thyroid function tests, neonatal hypoglycemia

n/a

n/a

 Symptom screen

11

3

13

6

3

2

 Abnormal

7

2

12

5

1

2

 Abnormal rate^a

64%

50% (67%)

86% (92%)

63% (83%)

25% (33%)

100%

 Abnormalities

GERD (n = 7), constipation (n = 4), anal atresia (n = 1), feeding tube (n = 2)

Constipation (n = 2), GERD

GERD (n = 11), constipation (n = 9), feeding tube (n = 4)

GERD (n = 4), eosinophilic esophagitis, feeding tube

GERD, chronic constipation

GERD (n = 2), constipation, feeding tube

 CBC completed

11

4

14

8

4

2

 Cytopenias

3

3

2

0

0

0

 Abnormal Rate^a

27%

75%

14%

0%

0%

0%

 Bloodwork

9

4

11

4

4

2

 Abnormal

2

2

4

1

2

0

 Abnormal Rate^a

18% (22%)

50%

29% (36%)

13% (26%)

50%

0%

 Abnormalities

Low Ig

Low Ig, T cell lymphopenia, inadequate vaccine titers

Low Ig (n = 2), absent thymus, inadequate vaccine response

Low Ig

Low Ig, recurrent MRSA infections, inadequate vaccine response

n/a

 Seizures

3

0

2

0

0

0

 % reported

27%

0%

14%

0%

0%

0%

 MRI

8

2

10

4

0

0

 Abnormal MRI

3

1

3

2

n/a

n/a

 Abnormal Rate^a

27% (38%)

25% (50%)

21% (30%)

25% (50%)

0%

0%

 MRI findings

Chiari 1, white matter lesions, pachygyria

Minimal bilateral congenital optic nerve hypoplasia

Chiari 1, hypoplastic corpus callosum, polymicrogyria

Prominent ventricles, subarachnoid spaces, choroid plexus cysts

n/a

n/a

 Ophtho exam

9

4

11

3

4

1

 Abnormal

3

2

5

1

0

0

 Abnormal rate^a

27% (33%)

50%

45%

13% (33%)

n/a

n/a

 Abnormalities

Astigmatism, exophoria, nystagmus

Strabismus, minimal ONH

Anisocoria, iris coloboma, ONH nystagmus (n = 2), retinal detachment, strabismus (n = 3)

Amblyopia

n/a

n/a

 Clinical eval.

9

4

12

6

2

2

 Abnormal

8

3

4

1

0

1

 Abnormal rate^a

89% (73%)

75% (27%)

33% (29%)

17% (13%)

0%

50%

 Abnormalities

SMCP (n = 3) VPI (n = 8)

SMCP (n = 1), VPI (n = 3)

SMCP (n = 2), VPI (n = 4)

High arched palate with small uvula

n/a

VPI

 Ultrasound

9

2

9

6

2

1

 Abnormal

3

0

1

4

1

0

 Abnormal rate^a

27% (33%)

0%

7% (11%)

50% (67%)

25% (50%)

0%

 Abnormalities

Bilateral pelviectasis, nephrocalcinosis hydronephrosis

n/a

Medullary nephrocalcinosis

Duplicated collecting system, small kidneys (n = 3)

Solitary, low-lying kidney

n/a

 Screening x-rays

6

4

4

2

1

1

 Abnormal

6

3

2

1

1

0

 Abnormal Rate^a

55% (100%)

38% (75%)

14% (50%)

13% (50%)

25% (100%)

0%

 Abnormalities

Hypoplastic vertebra (n = 2), vertebral fusion (n = 4), extra lumbar vertebra

Fusion of C2-C3, kyphoscoliosis, thickened spinous process of C2

Scoliosis, C2-C3 fusion and dysmorphic dens, upswept C2

Hemivertebra at T9, absent rib

6 thoracic ribs and 6 lumbar vertebrae

n/a