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Revista Finlay
versión On-line ISSN 2221-2434
Resumen
RIVAS ALPIZAR, Elodia; ROJAS QUINTANA, Práxedes y REYES PEREZ, Aimé. Pericentric Inversion of Chromosome 1. A Case Report: Computed Tomographic Characteristics and Outcome. Rev. Finlay [online]. 2015, vol.5, n.4, pp. 285-288. ISSN 2221-2434.
Chromosomal abnormalities are more common in infertile couples that in the general population. Among infertile patients, an overall incidence of 2.1 % and 6 % has been observed in women and men respectively. The highest incidence is found in azoospermic men, reaching up to 16 %. Pericentric inversions are among the most common balanced chromosome rearrangements, with a frequency of 1-2 %. The case of a patient treated at the Territorial Center for Assisted Reproduction in Cienfuegos due to a two-year history of infertility is presented. A cytogenetic study was conducted and a pericentric inversion of chromosome 1 46, XY inv (1) (p13 q32) was diagnosed. The importance of performing a cytogenetic study in men with severe seminal alterations is undeniable since diagnosis of this condition can lead to identification of patients at risk of transmitting it to their offspring.
Palabras clave : chromosomes human pair 1; chromosome aberrations; case reports.