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

4^a

4%

2.7%

Riegel et al [2001]

254

FISH

10^b

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

53^b

Highly selected (dysmorphic features +/- major malformations +/- positive family history)

13

7

6^c

6.5%

3%

Anderlid et al [2002]

111

FISH

40^b

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

5^d

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

3^e

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

8^f

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

27^g

25^g

2^h

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

17^{g, j}

16^g

1

5.5%^g

0.2%

Shao et al [2008]

5380(patients with known and unknown Karyotype)

Array-CGH

Not Reported

No selection

236^k

216^k

20^k

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

4^l

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%