Table 1

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

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%

^a Two proved to be inherited and two were assumed to be inherited based on family history.

^b Degree of relationship not determined.

^c Five families confirmed, 1 not confirmed.

^d Mother normal, father not available (1 family).

^e In one family with 4 affected siblings, the deletion was not detected in the parents, germline mosaicism or balanced translocation are suggested.

^f Parents not available in 3 families.

^g polymorphisms are included.

^h Mother normal, father not available (1 family).

ⁱ Abnormalities which were detected by Karyotype were excluded.

^j No information was available on the phenotype of the carrier parents (in 6 families).

^k Including abnormalities detected by Karyotype.

^l The details of the parental studies are not reported.

Rafati et al. Molecular Cytogenetics 2012 5:4   doi:10.1186/1755-8166-5-4