Table 3 Surveys estimating the prevalence of significant subtelomere imbalances in individuals with mental retardation and normal cytogenetic results
Reference | Assay used in study | Number of cases | Inclusion/selection criteria | No of patients with clinically relevant aberrations |
|---|---|---|---|---|
Vorsanova et al., 1998 (27) | FISH | 209 | children with MR | 8 (3.8%) |
Knight et al., 1999 (13) | FISH | 466 | children and young adults with MR | 22 (4.7%) |
Riegel et al., 2001 (24) | FISH | 254 | MR plus dysmorphic signs | 13 (5.1%) |
Baker at al., 2002 (21) | FISH | 250 | MR/DD with and without dysmorphisms | 9 (3.6%) |
Van Karnebeek et al., 2002 (26) | FISH | 266 | MR | 29 (10.9%) |
Jalal et al., 2003 (22) | FISH | 372 | MR with and without dysmorphisms | 24 (6.5%) |
Yu et al., 2005 (20) | FISH | 543 | MR with and without dysmorphisms, newborns with malformations/dysmorphisms | 7 (1.3%) |
Ravnan et al., 2006 (14) | FISH | 11,688 | MR/DD with a wide range of indications | 303 (2.6%) |
Koolen et al., 2004 (23) | MLPA | 210 | MR | 7 (4.3%) |
Rooms et al., 2006 (25) | MLPA | 275 | MR | 8 (2.9%) |
Present study | qPCR | 296 | MR with and without dysmorphisms | 11 (3.7%) |