PMID- 37436242
OWN - NLM
STAT- MEDLINE
DCOM- 20230714
LR  - 20230718
IS  - 1984-0462 (Electronic)
IS  - 0103-0582 (Print)
IS  - 0103-0582 (Linking)
VI  - 42
DP  - 2023
TI  - Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for 
      Williams-Beuren syndrome in developing countries: a literature review.
PG  - e2022125
LID - S0103-05822023000200503 [pii]
LID - 10.1590/1984-0462/2023/41/2022125 [doi]
LID - e2022125
AB  - OBJECTIVE: The aim of this study was to sum up and characterize all 
      Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization 
      (FISH) since its implementation, as well as to discuss FISH as a cost-effective 
      methodology in developing countries. DATA SOURCE: From January 1986 to January 
      2022, articles were selected using the databases in PubMed (Medline) and SciELO. 
      The following terms were used: Williams syndrome and In Situ Hybridization, 
      Fluorescence. Inclusion criteria included Williams-Beuren syndrome cases 
      diagnosed by FISH with a stratified phenotype of each patient. Only studies 
      written in English, Spanish, and Portuguese were included. Studies with 
      overlapping syndromes or genetic conditions were excluded. DATA SYNTHESIS: After 
      screening, 64 articles were included. A total of 205 individuals with 
      Williams-Beuren syndrome diagnosed by FISH were included and further analyzed. 
      Cardiovascular malformations were the most frequent finding (85.4%). 
      Supravalvular aortic stenosis (62.4%) and pulmonary stenosis (30.7%) were the 
      main cardiac alterations described. CONCLUSIONS: Our literature review reinforces 
      that cardiac features may be the key to early diagnosis in Williams-Beuren 
      syndrome patients. In addition, FISH may be the best diagnostic tool for 
      developing nations that have limited access to new technologic resources.
FAU - Carlotto, Bianca Soares
AU  - Carlotto BS
AUID- ORCID: 0000-0002-3029-9598
AD  - Universidade Federal de Ciencias da Saude de Porto Alegre, Porto Alegre, RS, 
      Brazil.
FAU - Deconte, Desiree
AU  - Deconte D
AUID- ORCID: 0000-0002-6869-9167
AD  - Universidade Federal de Ciencias da Saude de Porto Alegre, Porto Alegre, RS, 
      Brazil.
FAU - Diniz, Bruna Lixinski
AU  - Diniz BL
AUID- ORCID: 0000-0003-1448-0298
AD  - Universidade Federal de Ciencias da Saude de Porto Alegre, Porto Alegre, RS, 
      Brazil.
FAU - Silva, Priscila Ramires da
AU  - Silva PRD
AUID- ORCID: 0000-0002-1712-7046
AD  - Universidade Federal de Ciencias da Saude de Porto Alegre, Porto Alegre, RS, 
      Brazil.
FAU - Zen, Paulo Ricardo Gazzola
AU  - Zen PRG
AUID- ORCID: 0000-0002-7628-4877
AD  - Universidade Federal de Ciencias da Saude de Porto Alegre, Porto Alegre, RS, 
      Brazil.
AD  - Irmandade da Santa Casa de Misericordia de Porto Alegre, Porto Alegre, RS, 
      Brazil.
FAU - Silva, Andre Anjos da
AU  - Silva AAD
AUID- ORCID: 0000-0003-3714-3171
AD  - Universidade do Vale do Rio dos Sinos, Sao Leopoldo, RS, Brazil.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20230710
PL  - Brazil
TA  - Rev Paul Pediatr
JT  - Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao 
      Paulo
JID - 9109353
SB  - IM
MH  - Humans
MH  - *Williams Syndrome/diagnosis/genetics
MH  - Developing Countries
MH  - In Situ Hybridization, Fluorescence
MH  - Phenotype
PMC - PMC10332443
COIS- Conflict of interests The authors declare there is no conflict of interest.
EDAT- 2023/07/12 13:07
MHDA- 2023/07/14 13:08
PMCR- 2023/07/10
CRDT- 2023/07/12 10:24
PHST- 2022/07/04 00:00 [received]
PHST- 2022/11/14 00:00 [accepted]
PHST- 2023/07/14 13:08 [medline]
PHST- 2023/07/12 13:07 [pubmed]
PHST- 2023/07/12 10:24 [entrez]
PHST- 2023/07/10 00:00 [pmc-release]
AID - S0103-05822023000200503 [pii]
AID - 10.1590/1984-0462/2023/41/2022125 [doi]
PST - epublish
SO  - Rev Paul Pediatr. 2023 Jul 10;42:e2022125. doi: 
      10.1590/1984-0462/2023/41/2022125. eCollection 2023.