PMID- 18000985
OWN - NLM
STAT- MEDLINE
DCOM- 20080102
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 24
DP  - 2007 Dec 15
TI  - Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation 
      dependent probe amplification.
PG  - 2924-30
AB  - 22q11 Deletion syndrome (22q11DS) is the most common microdeletion syndrome in 
      humans, occurring with an incidence of 1 in 4,000. In most cases the 
      submicroscopic deletion spans 3 Mb, but there are a number of other overlapping 
      and non-overlapping deletions that generate a similar phenotype. The majority of 
      the 22q11.2 microdeletions can be ascertained using a standard fluorescence in 
      situ hybridization (FISH) assay probing for TUPLE1 or N25 on 22q11.2. However, 
      this test fails to detect deletions that are either proximal or distal to the 
      FISH probes, and does not provide any information about the length of the 
      deletion. In order to increase the detection rate of 22q11.2 deletion and to 
      better characterize the size and position of such deletions we undertook a study 
      of 22q11.2 cases using multiplex ligation dependent probe amplification (MLPA). 
      We used MLPA to estimate the size of the 22q11.2 deletions in 51 patients 
      positive for TUPLE1 or N25 (FISH) testing, and to investigate 12 patients with 
      clinical features suggestive of 22q11DS and negative FISH results. MLPA analysis 
      confirmed a microdeletion in all 51 FISH-positive samples as well as 
      microduplications in three samples. Further, it allowed us to delineate deletions 
      not previously detected using standard clinical FISH probes in 2 of 12 subjects 
      with clinical features suggestive of 22q11DS. We conclude that MLPA is a 
      cost-effective and accurate diagnostic tool for 22q11DS with a higher sensitivity 
      than FISH alone. Additional advantages of MLPA testing in our study included 
      determination of deletion length and detection of 22q11.2 duplications. (c) 2007 
      Wiley-Liss, Inc.
CI  - (c) 2007 Wiley-Liss, Inc.
FAU - Stachon, Andrea C
AU  - Stachon AC
AD  - Institute of Medical Science, University of Toronto, Toronto, Canada.
FAU - Baskin, Berivan
AU  - Baskin B
FAU - Smith, Adam C
AU  - Smith AC
FAU - Shugar, Andrea
AU  - Shugar A
FAU - Cytrynbaum, Cheryl
AU  - Cytrynbaum C
FAU - Fishman, Leona
AU  - Fishman L
FAU - Mendoza-Londono, Roberto
AU  - Mendoza-Londono R
FAU - Klatt, Regan
AU  - Klatt R
FAU - Teebi, Ahmed
AU  - Teebi A
FAU - Ray, Peter N
AU  - Ray PN
FAU - Weksberg, Rosanna
AU  - Weksberg R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Oligonucleotide Probes)
SB  - IM
MH  - Case-Control Studies
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - *Gene Deletion
MH  - *Gene Duplication
MH  - Genetic Techniques
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Models, Genetic
MH  - Oligonucleotide Probes/chemistry
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - Syndrome
EDAT- 2007/11/16 09:00
MHDA- 2008/01/03 09:00
CRDT- 2007/11/16 09:00
PHST- 2007/11/16 09:00 [pubmed]
PHST- 2008/01/03 09:00 [medline]
PHST- 2007/11/16 09:00 [entrez]
AID - 10.1002/ajmg.a.32101 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Dec 15;143A(24):2924-30. doi: 10.1002/ajmg.a.32101.