Rearreglos cromosómicos complejos involucrados en la infertilidad masculina

Anduriña Barrios Martínez; Michel Soriano Torres; Damarys García Gómez; Yudelkis Benitez Cordero; Niurka González Domínguez; Luis Alberto Méndez Rosado

doi:10.56294/sctconf2023340

Original

Published: 2023-06-17

DOI: https://doi.org/10.56294/sctconf2023340

Complex chromosomal rearrangements involved in male infertility

Abstract

Complex chromosomal rearrangements (CCRs) are aberrations involving three or more chromosomes or three or more breakpoints, are extremely rare and approximately more than half are associated with affected phenotypes. Diagnosis is usually made by applying methods such as molecular karyotyping (aCGH) and fluorescence in situ hybridization (FISH). For the cytogenetic analysis we used peripheral blood lymphocyte culture stimulated with phytohemagglutinin using conventional cytogenetic methods adapted to the conditions of the Cytogenetics Laboratory of the National Center of Medical Genetics. Fifteen metaphases per patient were analyzed with a resolution of 450 bands per haploid set. The method of classification of the RCCs created by Kausch and collaborators was used. The patients studied came from the Assisted Reproduction Clinic of the Ramón González Coro Hospital where they presented reproductive disorders. They were evaluated in an interdisciplinary consultation and referred to the cytogenetics laboratory for analysis of their chromosomal complement. In the analysis and genetic counseling of these three patients carrying RCC, all the aspects mentioned above should be taken into consideration, with the obvious limitation in our environment of not having molecular tests available for the detection of some type of cryptic rearrangement or some specific mutation in a certain gene. However, with the use of conventional cytogenetic methods, personalized genetic counseling can be established for each RCC carrier, taking into account the chromosomes involved, the breakpoint, the size of the translocated segment and the possible genes involved in the breakpoint.

Keywords:

cytogenetic analysis,

chromosome aberration,

Complex chromosomal rearrangements,

infertility,

How to Cite

Barrios Martínez A, Soriano Torres M, García Gómez D, Benitez Cordero Y, González Domínguez N, Méndez Rosado LA. Complex chromosomal rearrangements involved in male infertility. Salud, Ciencia y Tecnología - Serie de Conferencias [Internet]. 2023 Jun. 17 [cited 2024 Jul. 4];2:340. Available from: https://conferencias.saludcyt.ar/index.php/sctconf/article/view/340

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The article is distributed under the Creative Commons Attribution 4.0 License. Unless otherwise stated, associated published material is distributed under the same licence.

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IV Jornadas de Fundamentos y Aplicaciones de la Interdisciplina (JFAI2023)

Vol. 2 (2023)

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