PMID- 16542387
OWN - NLM
STAT- MEDLINE
DCOM- 20060525
LR  - 20191210
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 69
IP  - 3
DP  - 2006 Mar
TI  - MLPA vs multiprobe FISH: comparison of two methods for the screening of 
      subtelomeric rearrangements in 50 patients with idiopathic mental retardation.
PG  - 228-33
AB  - Subtelomeric rearrangements not visible by conventional cytogenetic analysis have 
      been reported to occur in approximately 5% of patients with unexplained mental 
      retardation (MR). As the prevalence of MR is high, many patients need to be 
      screened for these chromosomal abnormalities routinely. Multiplex 
      ligation-dependent probe amplification (MLPA) is a new technique for measuring 
      sequence dosage, allowing large number of samples to be processed simultaneously 
      and thus significantly reducing laboratory work. We have assessed its performance 
      for the detection of subtelomeric rearrangements by comparing the results with 
      those of our previous multiprobe fluorescence in situ hybridization (FISH) assay. 
      We have tested 50 patients with idiopathic MR, dysmorphic features, congenital 
      malformations, and/or familial history of MR. Our results show a high degree of 
      concordance between the two techniques for the 50 samples tested. On the basis of 
      these results, we conclude that MLPA is a rapid, accurate, reliable, and 
      cost-effective alternative to FISH for the screening of subtelomeric 
      rearrangements in patients with idiopathic MR.
FAU - Palomares, M
AU  - Palomares M
AD  - Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain. 
      mpalomares.hulp@salud.madrid.org
FAU - Delicado, A
AU  - Delicado A
FAU - Lapunzina, P
AU  - Lapunzina P
FAU - Arjona, D
AU  - Arjona D
FAU - Aminoso, C
AU  - Aminoso C
FAU - Arcas, J
AU  - Arcas J
FAU - Martinez Bermejo, A
AU  - Martinez Bermejo A
FAU - Fernandez, L
AU  - Fernandez L
FAU - Lopez Pajares, I
AU  - Lopez Pajares I
LA  - eng
PT  - Comparative Study
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - *Chromosome Aberrations
MH  - Female
MH  - Genetic Testing/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Intellectual Disability/*genetics
MH  - Ligase Chain Reaction/*methods
MH  - Male
MH  - Microsatellite Repeats
MH  - Telomere/genetics
EDAT- 2006/03/18 09:00
MHDA- 2006/05/26 09:00
CRDT- 2006/03/18 09:00
PHST- 2006/03/18 09:00 [pubmed]
PHST- 2006/05/26 09:00 [medline]
PHST- 2006/03/18 09:00 [entrez]
AID - CGE567 [pii]
AID - 10.1111/j.1399-0004.2006.00567.x [doi]
PST - ppublish
SO  - Clin Genet. 2006 Mar;69(3):228-33. doi: 10.1111/j.1399-0004.2006.00567.x.