Identification, characterization and clinical implications of two markers detected at prenatal diagnosis

• Tipo: Artigo em Revista Científica Internacional
• Data: 2006

Autores

Leite, RP (Autor) Outra; Souto, M (Autor) Outra; Carvalho, B (Autor) Outra; Martins, M (Autor) Outra; Chaves, R (Autor) Outra; Morais, A (Autor) Outra; Guedes Pinto, H (Autor) Outra; Wienberg, J (Autor) Outra; Ribeiro, E (Autor) Outra

Revista

Título: Prenatal Diagnosis

Vol. 26

Páginas: 920-924

ISSN: 0197-3851

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 5 Citações

Scopus - 6 Citações

Outras Informações

ID Authenticus: P-004-H0V

DOI: 10.1002/pd.1527

Abstract (EN): Objectives Marker chromosomes are relatively rare in the general population as its identification at prenatal diagnosis. In this article, we identified and characterized two de novo supernumerary marker chromosomes in a mosaic form at prenatal diagnosis. Methods The two cases presented were detected during prenatal diagnosis at 17 and 15 weeks of gestation. The analyses were performed due to the advanced maternal age. In both cases, parent's karyotypes were normal. The identification of the marker chromosomes was possible by FISH techniques. Results One marker chromosome was derived from chromosome 5 and the other from chromosome 6. Both children are well at the moment. Conclusion The two cases described in the present paper, join to the ones already described in the literature. However these results are the first ones without any phenotypical anomalies, at least until the present. Every new characterization of marker chromosomes at prenatal diagnosis should be reported for determining a genotype-phenotype correlation, and thus be used for genetic counselling and risk evaluation. Copyright (C) 2006 John Wiley & Sons, Ltd.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 5