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Table 1 The analytical overview of 21 subtelomeric screening studies focusing on sample set features and proportion of hereditary subtelomeric rearrangements

From: "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements

Reference Number of Patients studied Method of Analysis Number of Families with "Familial ID" Patients Selection Number of Subtelomeric Rearrangements Frequency of Subtelomeric Rearrangements
      Overall De novo Hereditary Overall Hereditary
Knight et al [1999] 466
Mild ID: 182
Moderate to severe ID: 284
FISH 9 Reported Selected (high proportion of moderate to severe ID) 22 12 10 Mild: 0.5%
Mod-severe: 7.4%
Mild: 0%
Mod-severe: 3.52%
Ballif et al [2000] 154 FISH Not Reported No selection 4 4 0 2.7% 0
Fan et al [2001] 150 FISH Not Reported Selected (dysmorphic features +/- congenital malformations) 6 2 4a 4% 2.7%
Riegel et al [2001] 254 FISH 10b Highly selected (dysmorphic features +/- multiple congenital anomalies +/- positive family history) 13 7 6 5% 2%
Rosenberg et al [2001] 120 Microsatellite Marker Familial cases are excluded Highly selected 5 1 4 4.1% 3.3%
Rossi et al [2001] 200 FISH 53b Highly selected (dysmorphic features +/- major malformations +/- positive family history) 13 7 6c 6.5% 3%
Anderlid et al [2002] 111 FISH 40b Highly selected (dysmorphic features +/- major malformations +/- positive family history) 10 6 4 9% 3.6%
Baker et al [2002] 250 FISH 4 Reported Highly selected (dysmorphic features +/- major malformations) 9 4 5d 3.6% 2%
Rio et al [2002] 150 Automated Fluorescent Genotyping 24% of the families studied Highly selected (dysmorphic features +/- major malformations +/- positive family history) 12 9 3e 8% 2%
Van karnebeek et al [2002] 184 FISH 93 (positive family history of ID in the first, second or third degree relatives) No selection 1 1 0 0.5% 0
Jalal et al [2003] 372 FISH 2 Reported Selected (dysmorphic features) 23 15 8f 6.8% 2.15%%
Koolen et al [2004] 210 MLPA 2 Reported No selection 9 7 2 4.3% 0.9%
Ravnan et al [2006] 11688 FISH 4 Reported No selection 357 105/136
(136 parents studied)
31/136
(136 parents studied)
2.5% 0.7%
Rooms et al [2006] 275 MLPA 3 Reported No selection 8 5 3 2.9% 1.1%
Ruiter et al [2007] 624 MLP Not Reported No selection   Not Reported Not Reported Not Reported 0.8%
Ahn et al [2007] 455 FISH, MLPA Not Reported No selection 27g 25g 2h 5.9%g 0.4%
Stegmann et al [2008]9 466 MLPA Not Reported No selection 15 10 5 3.2% 1%
Ahn et al [2008]i 403 MLPA Not Reported No selection 17g, j 16g 1 5.5%g 0.2%
Shao et al [2008] 5380(patients with known and unknown Karyotype) Array-CGH Not Reported No selection 236k 216k 20k 4.4%k 0.4%**
  2725 (patients with known Karyotype)   Not Reported No selection 76 Not Reported Not Reported 2.8% Not Reported -
Wu et al [2010] 451 MLPA, SNP array Not Reported Selected (Moderate to severe ID) 23 19 4l 5.1% 0.9%
The present study 322 MLPA 102 (positive family history in the first degree relatives) No selection 1 0 1 0.98% 0.98%
  1. a Two proved to be inherited and two were assumed to be inherited based on family history.
  2. b Degree of relationship not determined.
  3. c Five families confirmed, 1 not confirmed.
  4. d Mother normal, father not available (1 family).
  5. eIn one family with 4 affected siblings, the deletion was not detected in the parents, germline mosaicism or balanced translocation are suggested.
  6. fParents not available in 3 families.
  7. g polymorphisms are included.
  8. h Mother normal, father not available (1 family).
  9. i Abnormalities which were detected by Karyotype were excluded.
  10. j No information was available on the phenotype of the carrier parents (in 6 families).
  11. k Including abnormalities detected by Karyotype.
  12. l The details of the parental studies are not reported.