Table 6.
Medial comorbidities in individuals with nested deletion or duplication of 22q11.2
| 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 |
The total number of patients in each group is designated in column headings. Each screened organ system is listed along with the number of patients who received the screening recommended for patients with classic 22q11.2 deletions and duplications. aWe present the rate of patients with abnormal findings as a percentage of total patients. Many patients did not receive all recommended screening; when not all patients were screened, we use parentheses to note the percentage of patients with abnormal findings ofthose who received screening
Abbreviations: ARSCA aberrant right subclavian artery, ALSCA aberrant left subclavian artery, ASD atrial septal defect (in cardiac row only, in remainder of manuscript ASD refers to autism spectrum disorder), CHL conductive hearing loss, C/SNHL mixed conductive and sensorineural hearing loss, GERD gastroesophageal reflux disease, HbA1C hemoglobin A1C, IAA interrupted aortic arch, Ig immunoglobulins, MRI magnetic resonance imaging, MRSA methicillin-resistant Staphylococcus aureus, ONH optic nerve hypoplasia, PA pulmonary artery, PDA patent ductus arteriosus, PFO patent foramen ovale, PS pulmonic stenosis, SMCP submucous cleft palate, SNHL sensorineural hearing loss, TA truncus arteriosus, TR tricuspid regurgitation, TOF Tetralogy of Fallot, TV tricuspid valve, VPI velopharyngeal insufficiency, VR vascular ring, VSD ventricular septal defect, n/a not applicable