Table 1.
Clinical manifestations of 22q11.2 and 22q11.2-like deletion syndromes.
| Chromosomal regions affected | ||||
|---|---|---|---|---|
| 22q11.2 | 10p14-13 | 4q34.1-q35.2 | 3p10.3 | |
| Frequency | 1/4000 | >100 individuals | rare | rare |
| Length of DNA deletion | 3 Mb or 1.5 Mb | 5 Mb | 17.4 Mb | 300 kb |
| Clinical Phenotype | % occurrence | |||
| Congenital heart disease (CHD) a | 75% | 82% | 15% | yes |
| Immune deficiency (thymic hypoplasia) b | 50–70% | 17% | nrd | yes |
| Hypocalcemia (hypoparathyroidism) | 35% | 22% | nrd | yes |
| Dysmorphic craniofacial features | 50% | 50% | 95-99% | yes |
| Developmental delay | 50% | 80-90% | 10% | yes |
| Renal anomalies | 14% | 5% | nrd | yes |
| Skeletal defects | 60% | nrd | 55% | nrd |
| Learning problems | 70% | 80-99% | 65% | yes |
| Psychiatric disorders c | 30% | nrd | nrd | nrd |
| Gastrointestinal abnormalities | 30% | nrd | nrd | nrd |
| Digital malformations (polydactyly) | 30% | 30-80% | 88% | nrd |
a
CHD includes interrupted aortic arches, Tetralogy of Fallot, right subclavian artery defects, ventricular septal defects, pulmonary atresia, and other outflow tract anomalies.
b
Immune deficiency is defined with peripheral T cell counts less than 1500 cells/µl.
c
Psychiatric disorders can include autism, schizophrenia, seizure disorder.
d
nr, not reported.