Cytogenetic Markers in Infertility
Fertility disorders affect numerous individuals, with an estimated 10-20% of couples worldwide experiencing difficulties in conceiving. In this context, genetic factors and chromosomal abnormalities stand out as one of the main causes, given that 1 in every 500 live newborns has chromosomopathies, 1...
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| Format: | Online |
| Language: | English |
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Facultad de Ciencias Exactas, Químicas y Naturales
2024
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| Subjects: | |
| Online Access: | https://www.fceqyn.unam.edu.ar/recyt/index.php/recyt/article/view/793 |
| _version_ | 1810375099719614464 |
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| author | Sioli, Gastón A. Doldán, Jorge C. A. Martinez, Cecilia N. |
| author_facet | Sioli, Gastón A. Doldán, Jorge C. A. Martinez, Cecilia N. |
| author_sort | Sioli, Gastón A. |
| collection | Revista de Ciencia y Tecnologia RECyT |
| description | Fertility disorders affect numerous individuals, with an estimated 10-20% of couples worldwide experiencing difficulties in conceiving. In this context, genetic factors and chromosomal abnormalities stand out as one of the main causes, given that 1 in every 500 live newborns has chromosomopathies, 1 in every 1000, 1 in every 1000 individuals carries some balanced translocation, and at least 50% of spontaneous abortions are attributed to chromosomal abnormalities. Furthermore, couples who present reproductive difficulties, recurrent miscarriages, fetal deaths, or prior children with malformations have a high incidence of chromosomal alterations and chromosomal heteromorphisms, which suggests a significant association. In our study, which covered the period 2011-2021, peripheral blood samples were collected from patients with reproductive problems from the Dr. Ramón Madariaga Hospital and other healthcare institutions in the province of Misiones. Cell processing and culture were performed to obtain lymphocyte metaphases, and banding techniques like GTG, CBG, and NOR were employed to establish the karyotype and identify chromosomal abnormalities and heteromorphisms. The cytogenetic results from a total of 652 samples revealed 54% women (352 cases) and 46% men (300 cases), with 78% having normal karyotypes (509 cases), 22% showing some chromosomal abnormality (143 cases), 49% of chromosomal heteromorphisms (70 cases), 16% of numerical chromosomal alterations (23 cases), 20% of structural chromosomal alterations (28 cases), 14% of chromosomal mosaicisms (20 cases), and 1% of other variants (2 cases). Among the most common chromosomal abnormalities were X monosomy, XXY trisomy, XYY trisomy, and mosaicism involving the sex chromosomes. Regarding structural chromosomal abnormalities, the presence of inversions in chromosomes 9 and 13, isochromosomes of the long arm of the X chromosome, reciprocal and Robertsonian autosomal translocations, rings, and marker chromosomes were detected. Meanwhile, observed chromosomal heteromorphisms included increases or decreases in heterochromatic regions (1qh, 9qh, 16qh, Yqh) and increases, decreases, or tandem duplications in satellite regions of acrocentric chromosomes (13, 14, 15, 21, and 22). Finally, only two cases of women with a 46,XY karyotype were detected, corresponding to gonadal dysgenesis, disorders of sexual differentiation or Swyer syndrome. Despite the availability of molecular diagnostic tools, karyotype establishment remains the first line of detection for chromosomal alterations and heteromorphisms. This approach enables the identification of chromosomal abnormalities, genotype-phenotype correlations and prognosis, all essential for providing rational, precise and efficient care to every patient and couple looking to plan their family. |
| format | Online |
| id | ojs-article-793 |
| institution | Facultad de Ciencias Exactas Quimicas y Naturales |
| language | English |
| publishDate | 2024 |
| publisher | Facultad de Ciencias Exactas, Químicas y Naturales |
| record_format | ojs |
| spelling | ojs-article-7932024-02-07T23:53:05Z Cytogenetic Markers in Infertility Marcadores Citogenéticos en Infertilidad Sioli, Gastón A. Doldán, Jorge C. A. Martinez, Cecilia N. Human infertility Chromosomal Alterations Heteromorphisms Infertilidad Humana Alteraciones Cromosómicas Heteromorfismos Fertility disorders affect numerous individuals, with an estimated 10-20% of couples worldwide experiencing difficulties in conceiving. In this context, genetic factors and chromosomal abnormalities stand out as one of the main causes, given that 1 in every 500 live newborns has chromosomopathies, 1 in every 1000, 1 in every 1000 individuals carries some balanced translocation, and at least 50% of spontaneous abortions are attributed to chromosomal abnormalities. Furthermore, couples who present reproductive difficulties, recurrent miscarriages, fetal deaths, or prior children with malformations have a high incidence of chromosomal alterations and chromosomal heteromorphisms, which suggests a significant association. In our study, which covered the period 2011-2021, peripheral blood samples were collected from patients with reproductive problems from the Dr. Ramón Madariaga Hospital and other healthcare institutions in the province of Misiones. Cell processing and culture were performed to obtain lymphocyte metaphases, and banding techniques like GTG, CBG, and NOR were employed to establish the karyotype and identify chromosomal abnormalities and heteromorphisms. The cytogenetic results from a total of 652 samples revealed 54% women (352 cases) and 46% men (300 cases), with 78% having normal karyotypes (509 cases), 22% showing some chromosomal abnormality (143 cases), 49% of chromosomal heteromorphisms (70 cases), 16% of numerical chromosomal alterations (23 cases), 20% of structural chromosomal alterations (28 cases), 14% of chromosomal mosaicisms (20 cases), and 1% of other variants (2 cases). Among the most common chromosomal abnormalities were X monosomy, XXY trisomy, XYY trisomy, and mosaicism involving the sex chromosomes. Regarding structural chromosomal abnormalities, the presence of inversions in chromosomes 9 and 13, isochromosomes of the long arm of the X chromosome, reciprocal and Robertsonian autosomal translocations, rings, and marker chromosomes were detected. Meanwhile, observed chromosomal heteromorphisms included increases or decreases in heterochromatic regions (1qh, 9qh, 16qh, Yqh) and increases, decreases, or tandem duplications in satellite regions of acrocentric chromosomes (13, 14, 15, 21, and 22). Finally, only two cases of women with a 46,XY karyotype were detected, corresponding to gonadal dysgenesis, disorders of sexual differentiation or Swyer syndrome. Despite the availability of molecular diagnostic tools, karyotype establishment remains the first line of detection for chromosomal alterations and heteromorphisms. This approach enables the identification of chromosomal abnormalities, genotype-phenotype correlations and prognosis, all essential for providing rational, precise and efficient care to every patient and couple looking to plan their family. Los trastornos de la fertilidad afectan a numerosas personas, estimándose que entre 10-20% de las parejas en todo el mundo experimentan dificultades para concebir. En este contexto, los factores genéticos y las anomalías cromosómicas se destacan como una de las principales causas, ya que 1 de cada 500 recién nacidos vivos presenta cromosomopatías, 1 de cada 1000 personas es portadora de alguna translocación balanceada, y al menos el 50% de los abortos espontáneos se atribuyen a anomalías cromosómicas. Además, las parejas que presentan dificultades reproductivas, abortos espontáneos recurrentes, muertes fetales o hijos previos con malformaciones, tienen una alta incidencia de alteraciones cromosómicas y heteromorfismos cromosómicos, lo que sugiere una asociación significativa. En nuestro estudio, que comprendió el período 2011-2021, se utilizaron muestras de sangre periférica de pacientes con problemas reproductivos del Hospital Escuela de Agudos “Dr. Ramón Madariaga” y otras instituciones de salud en la provincia de Misiones. Se realizó el procesamiento y cultivo celular para obtener metafases de linfocitos, y se emplearon técnicas de bandeo GTG, CBG y NOR para establecer el cariotipo e identificar anomalías y heteromorfismos cromosómicos. Los resultados citogenéticos de un total de 652 muestras, revelaron un 54% de mujeres (352 casos) y un 46% de varones (300 casos), un 78% de cariotipos normales (509 casos), un 22% con alguna anomalía cromosómica (143 casos), un 49% de heteromorfismos cromosómicos (70 casos), un 16% de alteraciones cromosómicas numéricas (23 casos), un 20% de alteraciones cromosómicas estructurales (28 casos), un 14% de mosaicismos cromosómicos (20 casos), y un 1% de otras variantes (2 casos). Dentro de las anomalías cromosómicas más frecuentes se encontraron la monosomía del X, la trisomía XXY, la trisomía XYY y los mosaicismos que involucran a los cromosomas sexuales. Respecto a las anomalías cromosómicas estructurales, se detectó la presencia de inversiones en el cromosoma 9 y 13, isocromosomas del brazo largo del cromosoma X, translocaciones autosómicas recíprocas y robertsonianas, anillos y cromosomas marcadores. Mientras que los heteromorfismos cromosómicos observados correspondieron a incrementos o acortamientos de las regiones heterocromáticas (1qh, 9qh, 16qh, Yqh), e incrementos, acortamientos o duplicaciones en tándem de regiones satelitales de los cromosomas acrocéntricos (13, 14, 15, 21 y 22). Por último, se detectaron sólo dos casos de mujeres con cariotipo 46,XY, que se correspondió con síndromes de diferenciación sexual, disgenesia gonadal o síndrome de Swyer. A pesar de la disponibilidad de herramientas de diagnóstico molecular, el establecimiento del cariotipo sigue siendo la primera línea de detección de alteraciones y heteromorfismos cromosómicos. Este enfoque permite identificar anomalías cromosómicas, correlacionar fenotipo-genotipo, proporcionar pronósticos, esencial para realizar una atención racional, precisa y eficiente para cada paciente y cada pareja que busca planificar su familiar. Facultad de Ciencias Exactas, Químicas y Naturales 2024-02-07 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion application/pdf text/html https://www.fceqyn.unam.edu.ar/recyt/index.php/recyt/article/view/793 Argentine Journal of Science and Technology; Vol. 40 No. Supl. 1 (2024); 18-19 Revista de Ciencia y Tecnología; Vol. 40 Núm. Supl. 1 (2024); 18-19 1851-7587 0329-8922 eng https://www.fceqyn.unam.edu.ar/recyt/index.php/recyt/article/view/793/814 https://www.fceqyn.unam.edu.ar/recyt/index.php/recyt/article/view/793/815 Derechos de autor 2023 Gastón A. Sioli, Jorge C. A. Doldán, Cecilia N. Martinez https://creativecommons.org/licenses/by-nc/2.5/ar/ |
| spellingShingle | Human infertility Chromosomal Alterations Heteromorphisms Infertilidad Humana Alteraciones Cromosómicas Heteromorfismos Sioli, Gastón A. Doldán, Jorge C. A. Martinez, Cecilia N. Cytogenetic Markers in Infertility |
| title | Cytogenetic Markers in Infertility |
| title_alt | Marcadores Citogenéticos en Infertilidad |
| title_full | Cytogenetic Markers in Infertility |
| title_fullStr | Cytogenetic Markers in Infertility |
| title_full_unstemmed | Cytogenetic Markers in Infertility |
| title_short | Cytogenetic Markers in Infertility |
| title_sort | cytogenetic markers in infertility |
| topic | Human infertility Chromosomal Alterations Heteromorphisms Infertilidad Humana Alteraciones Cromosómicas Heteromorfismos |
| topic_facet | Human infertility Chromosomal Alterations Heteromorphisms Infertilidad Humana Alteraciones Cromosómicas Heteromorfismos |
| url | https://www.fceqyn.unam.edu.ar/recyt/index.php/recyt/article/view/793 |
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33-Year Contribution of the Cytogenetics and Human Genetics Laboratory (LACyGH) – UNaM – IPS Agreement