PMID- 16143025
OWN - NLM
STAT- MEDLINE
DCOM- 20051020
LR  - 20191210
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 68
IP  - 4
DP  - 2005 Oct
TI  - Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 
      patients with 22q11.2 deletion syndrome.
PG  - 373-8
AB  - The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ 
      hybridization (FISH) with commercial probes. The chromosomal breakpoints and 
      deletion size are subsequently characterized by short tandem repeat (STR) 
      segregation tests or by further FISH probes. Recently, a multiplex 
      ligation-dependent probe amplification (MLPA) single tube assay was developed to 
      detect deletions of the 22q11.2 region and other chromosomal regions associated 
      with DiGeorge/velocardiofacial syndrome. We have compared the results of these 
      three techniques in a group of 30 patients affected with 22q11.2 deletion 
      syndrome. MLPA correctly called all patients who had been previously diagnosed by 
      FISH. The MLPA results were concordant in all patients with the STR analysis in 
      respect to deletion size. Furthermore, this novel technique resolved seven cases 
      that were undetermined by STR analysis. These results confirm the efficiency of 
      MLPA as a rapid, reliable, economical, high-throughput method for the diagnosis 
      of 22q11.2 deletion syndrome.
FAU - Fernandez, L
AU  - Fernandez L
AD  - Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain. 
      lfernandez.hulp@salud.madrid.org
FAU - Lapunzina, P
AU  - Lapunzina P
FAU - Arjona, D
AU  - Arjona D
FAU - Lopez Pajares, I
AU  - Lopez Pajares I
FAU - Garcia-Guereta, L
AU  - Garcia-Guereta L
FAU - Elorza, D
AU  - Elorza D
FAU - Burgueros, M
AU  - Burgueros M
FAU - De Torres, M L
AU  - De Torres ML
FAU - Mori, M A
AU  - Mori MA
FAU - Palomares, M
AU  - Palomares M
FAU - Garcia-Alix, A
AU  - Garcia-Alix A
FAU - Delicado, A
AU  - Delicado A
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 Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence/methods
MH  - Karyotyping/methods
MH  - *Molecular Probe Techniques
MH  - *Nucleic Acid Amplification Techniques/methods
MH  - Syndrome
MH  - *Tandem Repeat Sequences
MH  - Velopharyngeal Insufficiency/genetics
EDAT- 2005/09/07 09:00
MHDA- 2005/10/21 09:00
CRDT- 2005/09/07 09:00
PHST- 2005/09/07 09:00 [pubmed]
PHST- 2005/10/21 09:00 [medline]
PHST- 2005/09/07 09:00 [entrez]
AID - CGE493 [pii]
AID - 10.1111/j.1399-0004.2005.00493.x [doi]
PST - ppublish
SO  - Clin Genet. 2005 Oct;68(4):373-8. doi: 10.1111/j.1399-0004.2005.00493.x.