Chromosomal Studies In Individuals With Infertility

Autores/as

  • Maria Elena de la Torre Santos Hospital Ginecobstetrico Mariana Grajales. Departamento de Genetica Medica https://orcid.org/0000-0003-0718-8651
  • Manuela Herrera Martinez Universidad de Ciencias Medicas de Villa Clara
  • Ana Esther Algora Hernandez Hospital Ginecobstetrico Mariana Grajales
  • Gisela Noche Gonzalez Hospital Ginecobstetrico Mariana Grajales
  • Arlan Machado Rojas Universidad de Ciencias Medicas de Villa Clara
  • Madeivy Paz Garcia Hospital Ginecobstetrico Mariana Grajales
  • Diley Rodriguez Conde Hospital Ginecobstetrico Mariana Grajales
  • Estrella Reyes Hernandez Hospital Ginecobstetrico Mariana Grajales https://orcid.org/0000-0001-5339-3256
  • Carolina Machado de la Torre Universidad de Ciencias Medicas de Villa Clara
  • Daniel Gonzalez Benitez Universidad de Ciencias Medicas de Villa Clara

Palabras clave:

Infertility, Karyotype, Chromosomal aberration, Aneuploidy, Klinefelter Syndrome, Turner Syndrome

Resumen

Objective: To determine the chromosomal constitution of infertile individuals.

Methodology: A cross-sectional descriptive study was carried out based on the results of the karyotypes in peripheral blood in infertile individuals. The sample consisted of infertile patients of both sexes, from the province of Villa Clara who were studied in the Cytogenetics Laboratory of the Provincial Center of Genetics, between the years 1991 and 2017. We analyzed the chromosome formulas obtained and the age of the subjects at the time of diagnosis.

Results: 232 individuals were studied, of which 97 were males and 135 females. 27.15% of the karyotypes were positive and in all, the sex chromosomes were involved. We found numerical chromosomal aberrations in thirty-one men (32%) in relation to Klinefelter Syndrome and variants. Thirty-two women (23.7%) had positive karyotype, where structural aberrations of the X chromosome and mosaicism predominated. The diagnosis of seven women with karyotype 46, XY (Androgen insensitivity Syndrome) and two 45,X/46,XY (Mixed gonadal dysgenesis) was significant. The average age at diagnosis in men was 31 years and in women 22 years.

Conclusions: Karyotyping is an essential study in infertility. The detailed clinical examination of this type of patients would facilitate early diagnosis and adequate therapeutics.

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Biografía del autor/a

Maria Elena de la Torre Santos, Hospital Ginecobstetrico Mariana Grajales. Departamento de Genetica Medica

Especialista de Segundo Grado en Genetica Clinica. Responsable del Laboratorio de Citogenetica de Santa Clara. Profesor Auxiliar de Genetica Medica

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Publicado

2019-05-27

Cómo citar

1.
de la Torre Santos ME, Herrera Martinez M, Algora Hernandez AE, Noche Gonzalez G, Machado Rojas A, Paz Garcia M, et al. Chromosomal Studies In Individuals With Infertility. Rev Cubana Inv Bioméd [Internet]. 27 de mayo de 2019 [citado 13 de julio de 2025];38(1). Disponible en: https://revibiomedica.sld.cu/index.php/ibi/article/view/176

Número

Sección

COMUNICACIÓN BREVE