PMID- 24065682
OWN - NLM
STAT- MEDLINE
DCOM- 20140408
LR  - 20151119
IS  - 1676-5680 (Electronic)
IS  - 1676-5680 (Linking)
VI  - 12
IP  - 3
DP  - 2013 Sep 4
TI  - Assessment of clinical scoring systems for the diagnosis of Williams-Beuren 
      syndrome.
PG  - 3407-11
LID - 10.4238/2013.September.4.7 [doi]
AB  - Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical 
      and intellectual developmental delay, associated with congenital heart disease 
      and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 
      (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The 
      gold standard for WBS laboratory diagnosis is FISH (fluorescence in situ 
      hybridization), which is very costly. As a possible alternative, we investigated 
      the accuracy of three clinical diagnostic scoring systems in 250 patients with 
      WBS diagnosed by FISH. We concluded that all three systems could be used for the 
      clinical diagnosis of WBS, but they all gave a low percentage of false-positive 
      (6.0-9.2%) and false-negative (0.8-4.0%) results. Therefore, their use should be 
      associated with FISH testing.
FAU - Leme, D E S
AU  - Leme DE
AD  - Servico de Aconselhamento Genetico, Departamento de Genetica, Instituto de 
      Biociencias de Botucatu, Universidade Estadual Paulista, Botucatu, SP, Brasil.
FAU - Souza, D H
AU  - Souza DH
FAU - Mercado, G
AU  - Mercado G
FAU - Pastene, E
AU  - Pastene E
FAU - Dias, A
AU  - Dias A
FAU - Moretti-Ferreira, D
AU  - Moretti-Ferreira D
LA  - eng
PT  - Journal Article
DEP - 20130904
PL  - Brazil
TA  - Genet Mol Res
JT  - Genetics and molecular research : GMR
JID - 101169387
RN  - 9007-58-3 (Elastin)
SB  - IM
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 7/genetics
MH  - Elastin/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Research Design/*standards
MH  - Williams Syndrome/*diagnosis/*genetics/pathology
EDAT- 2013/09/26 06:00
MHDA- 2014/04/09 06:00
CRDT- 2013/09/26 06:00
PHST- 2013/09/26 06:00 [entrez]
PHST- 2013/09/26 06:00 [pubmed]
PHST- 2014/04/09 06:00 [medline]
AID - gmr2800 [pii]
AID - 10.4238/2013.September.4.7 [doi]
PST - epublish
SO  - Genet Mol Res. 2013 Sep 4;12(3):3407-11. doi: 10.4238/2013.September.4.7.