ALTERACIONES CROMOSOMICAS AUTOSOMICAS PDF

Background : Williams syndrome WS is a genetically based disorder caused by deletion of elastin and contiguous genes on chromosome 7q This syndrome is characterized by multiorganic involvement with dysmorphic facial features and a distinctive cognitive profile. It is an interesting model for elucidation of relationships between brain, cognition and genes. Patients have a visual-spatial cognition impaired with relative strengths in social and language abilities.

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The incidence of chromosome anomalies in newborn infants is 0. The phenotypic manifestations of chromosomal abnormalities are highly diverse. It is important to determine this risk to provide patients with appropriate genetic counseling.. ISSN: Phenotypic consequences of chromosome abnormalities. Descargar PDF. Autor para correspondencia. Hospital 12 de Octubre. Palabras clave:. It is important to determine this risk to provide patients with appropriate genetic counseling. Key words:.

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Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmatic sperm injection.

Hum Reprod, 12 , pp. Rousseaux, E. Chevret, M. Monteil, J. Cozzi, R. Pelletier, D. Delafontaine, et al. Hum Genet, 96 , pp. Sasagawa, T. Nakada, T. Terada, T. Robertsonian translocation associated with azoospermia. Urol Int, 44 , pp. Nakada, M. Ishigoooka, T. Hashimoto, K. Izumiya, Y. An azoospermic male with reciprocal translocation t 3;4 p21;q Urol Int, 48 , pp.

Antinolo, S. Borrego, L. Translocation t 1;5 q21;p13 in a male with azoospermia. Actas Urol Esp, 13 , pp. Gil, M. Gregori, A.

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