Table 1 Clinical data for 22q11.2DS subjects - Physical features
From: Genotype-phenotype correlation in 22q11.2 deletion syndrome
Deletion type | Cardiovascular anomalies | Palate abnormality | Facial dysmorphology | Hypocalcemia |
|---|---|---|---|---|
LCR A-D (TDR) | 67/97(0.69) | 80/97 (0.82) | 85/87 (0.98) | 27/97 (0.28) |
LCR A-B (~1.5 Mb) | 1/4 (0.25) | 3/4 (0.75) | 4/4 (1.00) | 0 |
LCR A-C (~2 Mb) | 3/4 (0.75) | 3/4 (0.75) | 4/4 (1.00) | 0 |
LCR A-D+ | 4/4 (1.00) | 4/4 (1.00) | 4/4 (1.00) | 1/4 (0.25) |
LCR B-D+ | 1/1 (1.00) | 1/1 (1.00) | 0 | 0 |