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Table 1 A summary of published results using MLPA to identify subtelomere imbalance.

From: Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre

Report

Samples

Abnormala

Inherited/Polymorphismb

Phenotype

Rooms (2004)

75

4 (5.3%)

-

Mental retardation

Koolen (2004)

210

8 (3.8%)

6 (2.9%)

Mental retardation

Northrop (2005)

51

3 (5.9%)

-

Mental retardation, congenital abnormalities

Kirchhoff (2005)

258

13 (5.0%)

16 (6.2%)

Mental retardation, dysmorphic features

Rooms (2006)

275

5 (1.8%)

7 (2.5%)

Mental retardation

  1. a Reported as likely to be clinically significant.
  2. b P019, P020 and/or P036A assays used, which contain some probes now known to detect polymorphic loci.