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%)

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

Auber et al. Molecular Cytogenetics 2009 2:10   doi:10.1186/1755-8166-2-10