From: Critical region within 22q11.2 linked to higher rate of autism spectrum disorder
 | A to B deletion (n = 11) | A to C deletion (n = 4) | B to D deletion (n = 14) | B to D duplication (n = 8) | C to D deletion (n = 4) | C to D duplication (n = 2) |
---|---|---|---|---|---|---|
Audiologic | ||||||
 Audiogram | 11 | 4 | 14 | 8 | 4 | 2 |
 Abnormal | 6 | 1 | 2 | 2 | 0 | 1 |
 Abnormal Ratea | 55% | 25% | 14% | 25% | 0% | 50% |
 Abnormalities | CHL | CHL | SNHL | CHL, CSNHL | n/a | CHL |
Cardiac | ||||||
 Echocardiogram | 9 | 4 | 11 | 5 | 2 | 1 |
 Abnormal | 7 | 3 | 7 | 1 | 1 | 0 |
 Abnormal Ratea | 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 |
Endocrine | ||||||
 Bloodwork | 11 | 4 | 14 | 4 | 4 | 1 |
 Abnormal | 6 | 2 | 6 | 2 | 0 | 0 |
 Abnormal Ratea | 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 |
GI | ||||||
 Symptom screen | 11 | 3 | 13 | 6 | 3 | 2 |
 Abnormal | 7 | 2 | 12 | 5 | 1 | 2 |
 Abnormal ratea | 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 |
Hematologic | ||||||
 CBC completed | 11 | 4 | 14 | 8 | 4 | 2 |
 Cytopenias | 3 | 3 | 2 | 0 | 0 | 0 |
 Abnormal Ratea | 27% | 75% | 14% | 0% | 0% | 0% |
Immune | ||||||
 Bloodwork | 9 | 4 | 11 | 4 | 4 | 2 |
 Abnormal | 2 | 2 | 4 | 1 | 2 | 0 |
 Abnormal Ratea | 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 |
Neurologic | ||||||
 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 Ratea | 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 |
Ophthalmologic | ||||||
 Ophtho exam | 9 | 4 | 11 | 3 | 4 | 1 |
 Abnormal | 3 | 2 | 5 | 1 | 0 | 0 |
 Abnormal ratea | 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 |
Palate | ||||||
 Clinical eval. | 9 | 4 | 12 | 6 | 2 | 2 |
 Abnormal | 8 | 3 | 4 | 1 | 0 | 1 |
 Abnormal ratea | 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 |
Renal | ||||||
 Ultrasound | 9 | 2 | 9 | 6 | 2 | 1 |
 Abnormal | 3 | 0 | 1 | 4 | 1 | 0 |
 Abnormal ratea | 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 |
Spine | ||||||
 Screening x-rays | 6 | 4 | 4 | 2 | 1 | 1 |
 Abnormal | 6 | 3 | 2 | 1 | 1 | 0 |
 Abnormal Ratea | 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 |