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

2006; Wiley; Volume: 26; Issue: 10 Linguagem: Inglês

10.1002/pd.1527

1097-0223

Rosário Pinto‐Leite, Marta Souto, Berta Carvalho, Márcia Martins, Raquel Chaves, Ângela Morais, Henrique Guedes‐Pinto, Johannes Wienberg, Eufémia Ribeiro,

Genomics and Chromatin Dynamics

Abstract 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 © 2006 John Wiley & Sons, Ltd.