Clinical presentations in 22q11.2DS compared to duplications on 22q11.2 and TBX1 variants
| Clinical disorder . | 22q11.2DS LCRA-D 3-Mb deletion 22q11.2DS LCRA-B 1.5-Mb deletion . | 22q11.2DS duplication . | TBX1 loss or gain of function . |
|---|---|---|---|
| Frequency | 1/2,150 | 1/1,600 | Rare (∼10–15 families) |
| Congenital problems: % affected | |||
| Thymic hypoplasia | 70–80% | 1–2%a | 20–45% |
| Thymic aplasia | <1% | Not reported | Not reported |
| Hypocalcemia | 50–65% | 2.8% | 45% |
| Cardiac defects | 60–85% | 4–6% | 56% |
| Craniofacial features | 80–90% | 12.7% | 100% |
| Speech delay (GERDb) | 70–90% | 46% | 33% |
| Postnatal concerns: % affected | |||
| Immunological | |||
| Allergy | 60% | 25% | Unknown |
| Autoimmunity | 5–10% | 2.3% | Unknown |
| CD3+ T cell lymphopenia | 60–70% | 2.6% | Unknown |
| Decreased class switch memory B cells | 70% | 25% | Unknown |
| Low pneumococcal vaccine responses | 39% | 0% | Unknown |
| Hypogammaglobulinemia | 6% | 10–20% | Unknown |
| Neurological | |||
| Developmental delay | 8–10% | 45–50% | 30% |
| Autism spectrum disorder | 15–40% | 20% | 38%c |
| Schizophrenia | 30–35% | Protective | 38%c |
| Disrupted blood–brain barrier | Unknown | Not reported | Not reported |
| Clinical disorder . | 22q11.2DS LCRA-D 3-Mb deletion 22q11.2DS LCRA-B 1.5-Mb deletion . | 22q11.2DS duplication . | TBX1 loss or gain of function . |
|---|---|---|---|
| Frequency | 1/2,150 | 1/1,600 | Rare (∼10–15 families) |
| Congenital problems: % affected | |||
| Thymic hypoplasia | 70–80% | 1–2%a | 20–45% |
| Thymic aplasia | <1% | Not reported | Not reported |
| Hypocalcemia | 50–65% | 2.8% | 45% |
| Cardiac defects | 60–85% | 4–6% | 56% |
| Craniofacial features | 80–90% | 12.7% | 100% |
| Speech delay (GERDb) | 70–90% | 46% | 33% |
| Postnatal concerns: % affected | |||
| Immunological | |||
| Allergy | 60% | 25% | Unknown |
| Autoimmunity | 5–10% | 2.3% | Unknown |
| CD3+ T cell lymphopenia | 60–70% | 2.6% | Unknown |
| Decreased class switch memory B cells | 70% | 25% | Unknown |
| Low pneumococcal vaccine responses | 39% | 0% | Unknown |
| Hypogammaglobulinemia | 6% | 10–20% | Unknown |
| Neurological | |||
| Developmental delay | 8–10% | 45–50% | 30% |
| Autism spectrum disorder | 15–40% | 20% | 38%c |
| Schizophrenia | 30–35% | Protective | 38%c |
| Disrupted blood–brain barrier | Unknown | Not reported | Not reported |