PMID- 23335707
OWN - NLM
STAT- MEDLINE
DCOM- 20131211
LR  - 20130121
IS  - 0025-7680 (Print)
IS  - 0025-7680 (Linking)
VI  - 73
IP  - 1
DP  - 2013
TI  - [Detection of a Williams Beuren syndrome case by MLPA].
PG  - 47-50
AB  - Williams-Beuren syndrome (WBS) is a rare developmental disorder characterized by 
      distinctive facial, neurobehavioral, and cardiovascular features. WBS is caused 
      by a heterozygous contiguous gene microdeletion of the WBS critical region on 
      chromosome 7q11.23. Confirmation of clinical suspicion is essential for clinical 
      monitoring of the patient and genetic counseling of the family. Fluorescence in 
      situ hybridization (FISH) is considered the gold standard technique for detecting 
      WBS. Multiplex ligation-dependent probe amplification (MLPA) has been introduced 
      into DNA diagnostic laboratories for the detection of copy number variations in 
      several diseases including WBS. The objective of this study was to confirm, by 
      MLPA, the clinical diagnosis of WBS in a pediatric patient. This technique 
      allowed to detect the deletion of CYLN2, FZD9, STX1A, ELN, LIMK1 and RFC2 genes. 
      In geographic regions were the detection by FISH is not available for this 
      disease, the MLPA methodology allowed to confirm the clinic diagnostic of WBS. To 
      our knowledge this is the first report demonstrating the confirmation of WBS by 
      MLPA in Argentina.
FAU - Laurito, Sergio
AU  - Laurito S
AD  - Laboratorio de Alteraciones Geneticas y Epigeneticas en Patologias Humanas 
      IHEM-CCT-CONICET-Mendoza, Facultad de Ciencias Medicas, Universidad Nacional de 
      Cuyo, Mendoza.
FAU - Branham, Teresita
AU  - Branham T
FAU - Herrero, Gustavo
AU  - Herrero G
FAU - Marsa, Silvana
AU  - Marsa S
FAU - Garro, Fernanda
AU  - Garro F
FAU - Roque, Maria
AU  - Roque M
LA  - spa
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
TT  - Deteccion de un caso de sindrome de Williams-Beuren por MLPA.
PL  - Argentina
TA  - Medicina (B Aires)
JT  - Medicina
JID - 0204271
SB  - IM
MH  - Aortic Stenosis, Supravalvular/diagnosis
MH  - Child, Preschool
MH  - Gene Dosage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Multiplex Polymerase Chain Reaction
MH  - Williams Syndrome/*diagnosis/genetics
EDAT- 2013/01/22 06:00
MHDA- 2013/12/16 06:00
CRDT- 2013/01/22 06:00
PHST- 2013/01/22 06:00 [entrez]
PHST- 2013/01/22 06:00 [pubmed]
PHST- 2013/12/16 06:00 [medline]
PST - ppublish
SO  - Medicina (B Aires). 2013;73(1):47-50.