Resumo

SANTANA HERNANDEZ, Elayne Esther et al. Phenotypical manifestations of a case with clinical suspicious of partial trisomy of chromosome 9p. Gac Méd Espirit [online]. 2015, vol.17, n.1, pp. 68-73. ISSN 1608-8921.

Background: Chromosome anomalies can be either numeric or structural; this last one can be reproduced by partial or total duplication of a chromosome, as described in the trisomy of chromosome 9p. The ones affected by this chromosopathy are characterized by hypotonia, intellectual incapacity, psychomotor retardation, distinctive craniofacial malformations and foot and hands anomalies. Objective: To illustrate, due to it’s a case of chromosopathy. Case presentation: There are described the phenotypical manifestations of a two-year-old child with clinical diagnosis of partial trisomy 9p with a non balanced karyotype defined by the formula: 47,XY+(mar). Conclusion: This patient is suffering from a novo trisomy in pure line; having non confirmed diagnosis by molecular study by fluorescent hybridation in situ (FISH), it was necessary the early clinical diagnosis for early intervention and for giving genetic upgrading to the family.

Palavras-chave : Trisomy; Trisomy 9p chromosome; chromosome aberrations; Rethore syndrome; chromosome disorders; Down syndrome.

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