Table 1.
A summary of published results using MLPA to identify subtelomere imbalance.
| Report | Samples | Abnormala | Inherited/Polymorphismb | Phenotype |
| Rooms (2004) | 75 | 4 (5.3%) | - | Mental retardation |
| Koolen (2004) | 210 | 8 (3.8%) | 6 (2.9%) | Mental retardation |
| Northrop (2005) | 51 | 3 (5.9%) | - | Mental retardation, congenital abnormalities |
| Kirchhoff (2005) | 258 | 13 (5.0%) | 16 (6.2%) | Mental retardation, dysmorphic features |
| Rooms (2006) | 275 | 5 (1.8%) | 7 (2.5%) | Mental retardation |
a Reported as likely to be clinically significant.
b P019, P020 and/or P036A assays used, which contain some probes now known to detect polymorphic loci.