Abstract

SANTANA HERNANDEZ, Elayne et al. Abnormal Karyotype: 45, XXt (13q; 14q) 5p+++. Rev Ciencias Médicas [online]. 2015, vol.19, n.3, pp.564-569. ISSN 1561-3194.

The karyotype study performed to an 8-year-old female patient, under previous study due to moderate intellectual disability and facial dysmorphias in the limbs, showed the following results:   45, XXt (13q; 14q) 5p+++. In this study a chromosomal finding of an inherited Robertsonian translocations by maternal line combined with a partial trisomy of chromosome 5p was reported.

Keywords : Genetic translocation; Trisomy.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )