Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

Subtelomeric rearrangements are responsible for 5% to 10% of cases of unexplained mental retardation. Despite their clinical relevance, methods to screen for these cytogenetically invisible abnormalities on a routine base are scarce. We screened patients with idiopathic mental retardation for subtelomeric aberrations using multiplex ligation-dependent probe amplification (MLPA). This recently developed technique is based on PCR amplification of ligated probes hybridized to chromosome ends. Currently, 41 telomeres can be screened in just two multiplex reactions. Four subtelomeric rearrangements (5.3%) were detected in a group of 75 patients with mild to severe mental retardation in combination with dysmorphic features and/or a familial history of mental retardation: two terminal 1p deletions, a terminal 1q deletion, and a terminal 3p deletion. Deletions could be verified by FISH and marker analysis. In one case the MLPA indicated a terminal 21q deletion due to a 3-bp deletion at the site of the probe, giving a false-positive rate of 1.3%. This study demonstrates that MLPA is a fast and reliable screening method, potentially suitable for use in routine diagnostics.

Rooms L ，Reyniers E ，van Luijk R ，Scheers S ，Wauters J ，Ceulemans B ，Van Den Ende J ，Van Bever Y ，Kooy RF ... -  《-》

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

Rooms L ，Reyniers E ，Wuyts W ，Storm K ，van Luijk R ，Scheers S ，Wauters J ，van den Ende J ，Biervliet M ，Eyskens F ，van Goethem G ，Laridon A ，Ceulemans B ，Courtens W ，Kooy RF ... -  《CLINICAL GENETICS》

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

Koolen DA ，Nillesen WM ，Versteeg MH ，Merkx GF ，Knoers NV ，Kets M ，Vermeer S ，van Ravenswaaij CM ，de Kovel CG ，Brunner HG ，Smeets D ，de Vries BB ，Sistermans EA ... -  《-》

[Multiplex ligation-dependent probe amplification analysis of subtelomeric chromosome rearrangements in children with idiopathic mental retardation].

Li MR ，Wang XZ ，Yang YL ，Zhang YH ，Xiong H ，Bao XH ，Zhong N ，Wu XR ，Pan H ... -  《-》

Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements.

Stegmann AP ，Jonker LM ，Engelen JJ 《European Journal of Medical Genetics》