Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas
<p><strong>Background</strong>: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.</p><p><strong>Objective&l...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Spanish |
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Universidad de Ciencias Médicas de Las Tunas
2017-02-01
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| Series: | Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta |
| Subjects: | |
| Online Access: | http://revzoilomarinello.sld.cu/index.php/zmv/article/view/1045 |
| _version_ | 1818622926330527744 |
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| author | Enelis Reyes Reyes Nora María Orive Rodríguez Glenys Katiuska Silva González Lisset Romero Portelles Ivette Díaz Plá |
| author_facet | Enelis Reyes Reyes Nora María Orive Rodríguez Glenys Katiuska Silva González Lisset Romero Portelles Ivette Díaz Plá |
| author_sort | Enelis Reyes Reyes |
| collection | DOAJ |
| description | <p><strong>Background</strong>: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.</p><p><strong>Objective</strong>: to describe the results of the cytogenetic study in peripheral blood of patients with infertility and other fertility defects, diagnosed and genetically counseled in Las Tunas, from January 2014 to August 2016.</p><p><strong>Methods</strong>: an observational, descriptive and retrospective research of the cytogenetic studies performed in the peripheral blood to study infertility was carried out in the province and during the period herein mentioned. The following variables were assessed: positivity of the cytogenetic study, patient sex, chromosomal alteration according to sexual phenotype, and the manifestations of infertility or fertility defects as criteria for the indication of the study.</p><p><strong>Results</strong>: 86 patients were studied. 5 patients presented chromosomal alterations, with a prevalence of the male sex with 4 patients for 10,5 %. The numerical chromosomal aberrations predominated over the structural ones, presenting the Klinefelter syndrome. Chromosomal markers related to chromosome 9 and 16, respectively, were detected in two patients. The highest number of indications corresponded to the clinical criterion of infertility, with 47 patients for 54,6 %, being insufficient the number of patients studied with other criteria.</p><strong>Conclusions</strong>: the results of the peripheral blood cytogenetic study of the patients included in the research were described. |
| first_indexed | 2024-12-16T18:32:56Z |
| format | Article |
| id | doaj.art-29fa961194c3413b8bbd5c032a232d15 |
| institution | Directory Open Access Journal |
| issn | 1029-3027 |
| language | Spanish |
| last_indexed | 2024-12-16T18:32:56Z |
| publishDate | 2017-02-01 |
| publisher | Universidad de Ciencias Médicas de Las Tunas |
| record_format | Article |
| series | Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta |
| spelling | doaj.art-29fa961194c3413b8bbd5c032a232d152022-12-21T22:21:14ZspaUniversidad de Ciencias Médicas de Las TunasRevista Electrónica Dr. Zoilo E. Marinello Vidaurreta1029-30272017-02-01422678Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las TunasEnelis Reyes Reyes0Nora María Orive Rodríguez1Glenys Katiuska Silva González2Lisset Romero Portelles3Ivette Díaz Plá4Departamento Provincial de Genética Médica. Hospital Pediátrico Provincial "Mártires de Las Tunas", Las Tunas.Departamento Provincial de Genética Médica. Hospital Pediátrico Provincial "Mártires de Las Tunas", Las Tunas.Departamento Provincial de Genética Médica. Hospital Pediátrico Provincial "Mártires de Las Tunas", Las Tunas.Departamento Provincial de Genética Médica. Hospital Pediátrico Provincial "Mártires de Las Tunas", Las Tunas.Departamento Provincial de Genética Médica. Hospital Pediátrico Provincial "Mártires de Las Tunas", Las Tunas.<p><strong>Background</strong>: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.</p><p><strong>Objective</strong>: to describe the results of the cytogenetic study in peripheral blood of patients with infertility and other fertility defects, diagnosed and genetically counseled in Las Tunas, from January 2014 to August 2016.</p><p><strong>Methods</strong>: an observational, descriptive and retrospective research of the cytogenetic studies performed in the peripheral blood to study infertility was carried out in the province and during the period herein mentioned. The following variables were assessed: positivity of the cytogenetic study, patient sex, chromosomal alteration according to sexual phenotype, and the manifestations of infertility or fertility defects as criteria for the indication of the study.</p><p><strong>Results</strong>: 86 patients were studied. 5 patients presented chromosomal alterations, with a prevalence of the male sex with 4 patients for 10,5 %. The numerical chromosomal aberrations predominated over the structural ones, presenting the Klinefelter syndrome. Chromosomal markers related to chromosome 9 and 16, respectively, were detected in two patients. The highest number of indications corresponded to the clinical criterion of infertility, with 47 patients for 54,6 %, being insufficient the number of patients studied with other criteria.</p><strong>Conclusions</strong>: the results of the peripheral blood cytogenetic study of the patients included in the research were described.http://revzoilomarinello.sld.cu/index.php/zmv/article/view/1045infertilitychromosome aberrationschromosome disorders |
| spellingShingle | Enelis Reyes Reyes Nora María Orive Rodríguez Glenys Katiuska Silva González Lisset Romero Portelles Ivette Díaz Plá Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta infertility chromosome aberrations chromosome disorders |
| title | Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas |
| title_full | Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas |
| title_fullStr | Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas |
| title_full_unstemmed | Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas |
| title_short | Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas |
| title_sort | chromosomal aberrations as a cause of infertility diagnosis and genetic counseling in las tunas |
| topic | infertility chromosome aberrations chromosome disorders |
| url | http://revzoilomarinello.sld.cu/index.php/zmv/article/view/1045 |
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