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Table 3 Surveys estimating the prevalence of significant subtelomere imbalances in individuals with mental retardation and normal cytogenetic results

From: Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

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%)
  1. FISH, fluorescence in situ hybridisation; MLPA, multiplex ligation dependent probe amplification; qPCR, quantitative PCR