Table 1.
Results of CMA and clinical features of the patients with 22q11.2 deletions.
| Case no. | Gender | Age at diagnosis | Age at chart review | Deletion region | Deletion size (kb) | Flanking LCRs | Origin | Cardiovascular system | Skeletal system | Gastrointestinal system | Pulmonary system | Immune system | Other |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 8 y | 12 y | chr22: 18,916,842–19,024,794 | 108 | A | NA | – | Gait abnormalities | – | – | – | Obesity; Hearing loss |
| 2 | M | 11 m | 3 y | chr22: 18,916,842–19,024,659 | 108 | A | NA | – | – | – | – | Frequent infection | Anemia of prematurity; Retinopathy; Wide spaced nipples; Spicanthal folds |
| 3 | F | 3 y | 8 y | chr22: 18,916,842–19,024,659 | 108 | A | NA | – | – | – | – | Allergic rhinitis; Recurrent ear infection | – |
| 4 | F | 2 m | 5 y | Chr22: 18,916,842–19,024,659 | 108 | A | NA | Secundum ASD with spontaneous closure | Polydactyly | – | – | Recurrent otitis media | Goldenhar syndrome |
| 5 | M | 1 m | 6 y | Chr22: 18,644,790–21,465,659 | 2,821 | A-D | NA | Membranous VSD; Secundum ASD; Trace tricuspid insufficiency; Murmur | – | – | B/L peripheral pulmonary stenosis | SCID; Recurrent oral thrush; Low TREC at birth | Pierre Robin sequence; Poor weight gain; B/L middle ear disorder |
| 6 | M | 5 y | 9 y | Chr22: 18,916,842–21,465,662 | 2,548 | A-D | NA | Murmur not present at birth | – | – | – | Positive ANA, Low T cell count; Recurrent ear infection | Hypo-developed scrotum; Polycystic kidney disease; Glandular hypospadias; Obesity |
| 7 | F | 3 y | 10 y | Chr22: 18,916,842–21,800,797 | 2,884 | A-D | NA | Tetralogy of Fallot | – | – | – | Low lymphocyte count at birth | – |
| 8 | M | 6 y | 12 y | Chr22: 18,916,842–21,800,797 | 2,884 | A-D | NA | Secundum ASD, trivial mid-muscular VSD, Thickening of Aortic valve with trace regurgitation | – | – | – | – | Hearing loss |
| 9 | M | 14 d | 2 y | Chr22: 18,916,842–21,915,509 | 2,999 | A-D | NA | Supraventricular tachycardia; ASD with spontaneous closure | Polydactyly | Born with inguinal hernia; Gastrostomy tube after birth; Runny stools; Flatulence | Respiratory distress at birth; Tracheotomy | Low TREC at birth; Hypoparathyroidism; Low lymphocytes | Renal pyelectasis; U/L middle ear dysfunction; Paralysis of true vocal cords |
| 10 | F | Died at 8 d | 8 d | Chr22: 18,916,842–21,800,797 | 2,884 | A-D | NA | Cardiac failure; Intraventricular hemorrhage of left; Moderate size secundum ASD; Moderate size patent ductus arteriosus; Mild-moderate right atrial and right ventricular dilatation; Trace tricuspid insufficiency | – | – | Hypoplastic lungs with pulmonary hypotension; Respiratory failure | – | B/L multicystic dysplastic kidneys; Hypocalcemia; Hypomagnesemia; Hypopotassemia; Thrombocytopenia |
| 11 | F | 8 d | 1 y | Chr22: 18,648,866–21,800,797 | 3,152 | A-D | Assumed maternal | Moderate-large ASD; Mild right atrial and ventricular enlargement with thickening of aortic valve | Microcephal; Short stature | Born with inguinal hernia; Gastrostomy tube for poor feeding; Recurrent GERD | Cyanotic respiratory distress at birth | Low IgM levels | Hypocalcemia |
| 12 | M | 6 m | 4 y | Chr22: 21,049,799–21,798,907 | 749 | C-D | NA | Murmur; Trace tricuspid insufficiency; Dilated coronary sinus; Persistent left vena cava | – | Occasional constipation | – | Hashimoto thyroiditis; Elevated TSH; Recurrent oral candida; Low T cell at birth | B/L renal pyelectasis |
| 13 | F | 2 y | 9 y | Chr22: 21,465,661–22,962,196 | 1,497 | D-E | NA | Secundum ASD; Trace tricuspid insufficiency | – | Chronic constipation | – | Frequent respiratory infection | – |
| 14 | M | 1 y | 7 y | Chr22: 21,465,661–22,962,196 | 1,497 | D-E | Maternal | Murmur | Low muscle tone; Leg length discrepancy with outturned leg and abnormal gait | Some constipation with green stool | – | Low WBC count; Recurrent stuffy nose; Recurrent URIs | Single palmar crease; Hearing loss; B/L ear tags; Eczema |
| 15 | F | 24 y | 30 y | Chr22: 21,465,661–22,962,196 | 1,497 | D-E | NA | – | – | – | – | Allergic rhinitis | Seborrheic dermatitis |
| 16 | F | 2 d | 6 m | Chr22: 22,962,196–23,649,155 | 687 | E-F | NA | Complete atrioventricular septal defect; Large primum ASD; Large endocardial cushion; VSD; Single common thickened and dysplastic atrioventricular valve with moderate regurgitation; Mild thickening of the aortic and pulmonary valves; Pulmonary insufficiency | NA | NA | NA | Transient abnormal myelopoiesis associated with Down syndrome | NA |
Notes: Genomic linear positions are given relative to NCBI build 37 (hg19); –, indicates no abnormal features reported in the patient; ASD, atrial septal defect; ANA, antinuclear antibody; B/L, bilateral; d, days; F, female; GERD, gastroesophageal reflux disease; kb, kilo base pairs; IgM, immunoglobulin M; M, male; m, months; NA, information is not available; SCID, Severe combined immunodeficiency; TREC, T cell receptor excision circle; TSH, thyroid-stimulating hormone; U/L, unilateral; URI, upper respiratory infection; VSD, ventricular septal defect; WBC, white blood cell; y, years old.