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Revista de Ciencias Médicas de Pinar del Río
versión On-line ISSN 1561-3194
Resumen
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.
Palabras clave : Genetic translocation; Trisomy.
