PMID- 22226172
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20121002
LR  - 20211021
IS  - 1756-0500 (Electronic)
IS  - 1756-0500 (Linking)
VI  - 5
DP  - 2012 Jan 9
TI  - Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy 
      for developing countries.
PG  - 13
LID - 10.1186/1756-0500-5-13 [doi]
AB  - BACKGROUND: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous 
      contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), 
      mental retardation, and overfriendliness comprise typical symptoms of WBS. 
      Although fluorescence in situ hybridization (FISH) is considered the gold 
      standard technique, the microsatellite DNA markers and multiplex 
      ligation-dependent probe amplification (MLPA) could be used for to confirm the 
      diagnosis of WBS. RESULTS: We have evaluated a total cohort of 88 patients with a 
      suspicion clinical diagnosis of WBS using a collection of five markers (D7S1870, 
      D7S489, D7S613, D7S2476, and D7S489_A) and a commercial MLPA kit (P029). The 
      microdeletion was present in 64 (72.7%) patients and absent in 24 (27.3%) 
      patients. The parental origin of deletion was maternal in 36 of 64 patients 
      (56.3%) paternal in 28 of 64 patients (43.7%). The deletion size was 1.55 Mb in 
      57 of 64 patients (89.1%) and 1.84 Mb in 7 of 64 patients (10.9%). The results 
      were concordant using both techniques, except for four patients whose 
      microsatellite markers were uninformative. There were no clinical differences in 
      relation to either the size or parental origin of the deletion. CONCLUSION: MLPA 
      was considered a faster and more economical method in a single assay, whereas the 
      microsatellite markers could determine both the size and parental origin of the 
      deletion in WBS. The microsatellite marker and MLPA techniques are effective in 
      deletion detection in WBS, and both methods provide a useful diagnostic strategy 
      mainly for developing countries.
FAU - Dutra, Roberta L
AU  - Dutra RL
AD  - Department of Genetics, Instituto da Crianca, Universidade de Sao Paulo, Sao 
      Paulo, Brazil. roberta.dutra@icr.usp.br.
FAU - Honjo, Rachel S
AU  - Honjo RS
FAU - Kulikowski, Leslie D
AU  - Kulikowski LD
FAU - Fonseca, Fernanda M
AU  - Fonseca FM
FAU - Pieri, Patricia C
AU  - Pieri PC
FAU - Jehee, Fernanda S
AU  - Jehee FS
FAU - Bertola, Debora R
AU  - Bertola DR
FAU - Kim, Chong A
AU  - Kim CA
LA  - eng
PT  - Journal Article
DEP - 20120109
PL  - England
TA  - BMC Res Notes
JT  - BMC research notes
JID - 101462768
PMC - PMC3285034
EDAT- 2012/01/10 06:00
MHDA- 2012/01/10 06:01
PMCR- 2012/01/09
CRDT- 2012/01/10 06:00
PHST- 2011/10/12 00:00 [received]
PHST- 2012/01/09 00:00 [accepted]
PHST- 2012/01/10 06:00 [entrez]
PHST- 2012/01/10 06:00 [pubmed]
PHST- 2012/01/10 06:01 [medline]
PHST- 2012/01/09 00:00 [pmc-release]
AID - 1756-0500-5-13 [pii]
AID - 10.1186/1756-0500-5-13 [doi]
PST - epublish
SO  - BMC Res Notes. 2012 Jan 9;5:13. doi: 10.1186/1756-0500-5-13.