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Rosana Cardoso Manique Rosa ; Marina Boff Lorenzen ; Paulo R. G. Zen ; Ceres A. V. de Oliveira ; Carla Graziadio ; Giorgio A. Paskulin ;Jornal de Pediatria 2012, 88 5

Autor: Rafael F. M. Rosa



Jornal de Pediatria ISSN: 0021-7557 Sociedade Brasileira de Pediatria Brasil Rosa, Rafael F.
M.; Cardoso Manique Rosa, Rosana; Boff Lorenzen, Marina; Zen, Paulo R.
G.; de Oliveira, Ceres A.
V.; Graziadio, Carla; Paskulin, Giorgio A. Limb abnormalities on trisomy 18: evidence for early diagnosis Jornal de Pediatria, vol.
88, núm.
5, septiembre-octubre, 2012, pp.
401-405 Sociedade Brasileira de Pediatria Porto Alegre, Brasil Disponível em: Como citar este artigo Número completo Mais artigos Home da revista no Redalyc Sistema de Informação Científica Rede de Revistas Científicas da América Latina, Caribe , Espanha e Portugal Projeto acadêmico sem fins lucrativos desenvolvido no âmbito da iniciativa Acesso Aberto 0021-7557-12-88-05-401 Jornal de Pediatria Original Article Copyright © by Sociedade Brasileira de Pediatria Limb abnormalities on trisomy 18: evidence for early diagnosis Rafael F.
Rosa,1 Rosana Cardoso Manique Rosa,2 Marina Boff Lorenzen,3 Paulo R.
Zen,4 Ceres A.
de Oliveira,5 Carla Graziadio,6 Giorgio A.
Paskulin7 Abstract Objective: To assess the frequency and types of limb abnormalities observed among patients with trisomy 18, or Edwards syndrome (ES). Method: The sample consisted of consecutive patients evaluated by a clinical genetics service in the period from 1975 to 2008.
The results of the cytogenetic analysis, as well as the clinical data were retrieved from the medical records, with special attention to limb abnormalities findings.
All the karyotype analysis was performed at the same laboratory. Results: During the study period, 50 patients were identified, 33 (66%) of them females, with ages at the first evaluation ranging from 1 day to 16 years (median 14 days).
The single lineage with free trisomy 18 was the most frequent chromosomal disorder (90%).
Mosaicism was observed in 10% of the cases.
Clenched fist with overlapping fingers was the pre...

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