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Revista Finlay

versão On-line ISSN 2221-2434

Resumo

RIVAS ALPIZAR, Elodia; ROJAS QUINTANA, Práxedes  e  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.

Palavras-chave : chromosomes human pair 1; chromosome aberrations; case reports.

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