Frequency of Low-level Mosaicism in X-Cromosome in Couples with Antecedent of Recurrent Miscarriages

Recurrent miscarriage occurs in around 1 to 7 percent of couples. The etiology involves genetic, immunologic, anatomic, hormonal, metabolic, thrombophilic and infectious factors. With the aim of establishing the frequency of low-level mosaicism in the X-chromosome, in a population of couples with pr...

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Autores Principales: Forero C., Maribel, Lucena Q, Elkin, Esteban Pérez, Clara
Formato: Artículo (Article)
Lenguaje:Español (Spanish)
Publicado: Universidad del Rosario 2010
Materias:
Acceso en línea:http://revistas.urosario.edu.co/index.php/revsalud/article/view/566
http://repository.urosario.edu.co/handle/10336/7489
id ir-10336-7489
recordtype dspace
institution EdocUR - Universidad del Rosario
collection DSpace
language Español (Spanish)
topic Recurrent miscarriages; chromosomal abnormality; cytogenetics; sex chromosome mosaicism; low level mosaicism
Aborto recurrente; anormalidad cromosómica; citogenética; mosaicismo en cromosoma sexual; mosaicismo de baja proporción
spellingShingle Recurrent miscarriages; chromosomal abnormality; cytogenetics; sex chromosome mosaicism; low level mosaicism
Aborto recurrente; anormalidad cromosómica; citogenética; mosaicismo en cromosoma sexual; mosaicismo de baja proporción
Forero C., Maribel
Lucena Q, Elkin
Esteban Pérez, Clara
Frequency of Low-level Mosaicism in X-Cromosome in Couples with Antecedent of Recurrent Miscarriages
description Recurrent miscarriage occurs in around 1 to 7 percent of couples. The etiology involves genetic, immunologic, anatomic, hormonal, metabolic, thrombophilic and infectious factors. With the aim of establishing the frequency of low-level mosaicism in the X-chromosome, in a population of couples with prior recurrent miscarriages, a prospective case-control cytogenetic study took place on 20 couples, at the biogenetic laboratory in CECOLFES (Colombian Center of Fertility and Sterility). Clinical pathologic evaluation, anatomic, hormonal, infectious, andrologic and genetic studies were performed. As a conventional method in cytogenetic techniques, banding GTG was used for the study of structural and numeric chromosomal abnormalities whereas the molecular method of Fluorescence In Situ Hybridization (FISH) was used to confirm the mosaicism in sexual chromosomes. According to paraclinic results from the participating couples, diagnosis showed immunologic (75%), anatomic (30%), hormonal (25%), male (25%), infectious (25%), genetic (15%) and idiophatic factors (10%). Results from the cytogenetic analysis, were 10% of low-level mosaicism in the X-chromosome in two women whose final diagnosis included genetic and infectious factors for one and genetic and immunologic factors for the other. Only 10 % of the total miscarriages from the couples were evaluated. Conclusions include aspects such as multifactorial evidence of pathogenesis in recurrent miscarriage, the sub-diagnosis of genetic factors and the need to focus future investigations on cytogenetic interpretation and the clinicalpathological association between low-level mosaicism in the X-cromosome and recurrent miscarriage.
format Artículo (Article)
author Forero C., Maribel
Lucena Q, Elkin
Esteban Pérez, Clara
author_facet Forero C., Maribel
Lucena Q, Elkin
Esteban Pérez, Clara
author_sort Forero C., Maribel
title Frequency of Low-level Mosaicism in X-Cromosome in Couples with Antecedent of Recurrent Miscarriages
title_short Frequency of Low-level Mosaicism in X-Cromosome in Couples with Antecedent of Recurrent Miscarriages
title_full Frequency of Low-level Mosaicism in X-Cromosome in Couples with Antecedent of Recurrent Miscarriages
title_fullStr Frequency of Low-level Mosaicism in X-Cromosome in Couples with Antecedent of Recurrent Miscarriages
title_full_unstemmed Frequency of Low-level Mosaicism in X-Cromosome in Couples with Antecedent of Recurrent Miscarriages
title_sort frequency of low-level mosaicism in x-cromosome in couples with antecedent of recurrent miscarriages
publisher Universidad del Rosario
publishDate 2010
url http://revistas.urosario.edu.co/index.php/revsalud/article/view/566
http://repository.urosario.edu.co/handle/10336/7489
_version_ 1645141547942936576
spelling ir-10336-74892019-09-19T12:37:01Z Frequency of Low-level Mosaicism in X-Cromosome in Couples with Antecedent of Recurrent Miscarriages Frecuencia de mosaicismos de baja proporción del cromosoma x en parejas con antecedente de aborto recurrente Forero C., Maribel Lucena Q, Elkin Esteban Pérez, Clara Recurrent miscarriages; chromosomal abnormality; cytogenetics; sex chromosome mosaicism; low level mosaicism Aborto recurrente; anormalidad cromosómica; citogenética; mosaicismo en cromosoma sexual; mosaicismo de baja proporción Recurrent miscarriage occurs in around 1 to 7 percent of couples. The etiology involves genetic, immunologic, anatomic, hormonal, metabolic, thrombophilic and infectious factors. With the aim of establishing the frequency of low-level mosaicism in the X-chromosome, in a population of couples with prior recurrent miscarriages, a prospective case-control cytogenetic study took place on 20 couples, at the biogenetic laboratory in CECOLFES (Colombian Center of Fertility and Sterility). Clinical pathologic evaluation, anatomic, hormonal, infectious, andrologic and genetic studies were performed. As a conventional method in cytogenetic techniques, banding GTG was used for the study of structural and numeric chromosomal abnormalities whereas the molecular method of Fluorescence In Situ Hybridization (FISH) was used to confirm the mosaicism in sexual chromosomes. According to paraclinic results from the participating couples, diagnosis showed immunologic (75%), anatomic (30%), hormonal (25%), male (25%), infectious (25%), genetic (15%) and idiophatic factors (10%). Results from the cytogenetic analysis, were 10% of low-level mosaicism in the X-chromosome in two women whose final diagnosis included genetic and infectious factors for one and genetic and immunologic factors for the other. Only 10 % of the total miscarriages from the couples were evaluated. Conclusions include aspects such as multifactorial evidence of pathogenesis in recurrent miscarriage, the sub-diagnosis of genetic factors and the need to focus future investigations on cytogenetic interpretation and the clinicalpathological association between low-level mosaicism in the X-cromosome and recurrent miscarriage. El aborto recurrente se presenta entre el 1 y 7% de las parejas. Su etiología comprende factores genéticos, inmunológicos, anatómicos, hormonales, metabólicos, trombofílicos e infecciosos. Con el objetivo de establecer la frecuencia de mosaicismos de baja proporción en cromosomas sexuales, en una población de parejas con antecedente de aborto recurrente, se hizo un estudio citogenético prospectivo caso–control en 20 parejas, remitidas al Laboratorio de Biogenética del Centro Colombiano de Fertilidad y Esterilidad (CECOLFES). Se hizo valoración clínico-patológica, estudios anatómicos, hormonales, infecciosos, andrológicos y genéticos. Como técnicas citogenéticas se usaron el método convencional de bandeo GTG para el estudio de anomalías cromosómicas numéricas y estructurales y el método molecular de Hibridación in situ con Fluorescencia (FISH) para confirmar los mosaicismos en cromosomas sexuales. De acuerdo con los hallazgos paraclínicos de las parejas estudiadas, el diagnóstico mostró factores inmunológicos (75%), anatómicos (30%), hormonales (25%), masculinos (25%), infecciosos (25%), genéticos (15%) e idiopático (10%). Como resultados del estudio citogenético de las parejas, hubo un 10% de mosaicismos de baja proporción en cromosomas sexuales en dos mujeres abortadoras cuyo diagnóstico final incluyó factor genético e infeccioso y factor genético e inmune respectivamente. Sólo se estudió citogenéticamente el 10% de los productos de aborto de todas las parejas. Se concluye la evidencia multifactorial de la patogénesis del aborto recurrente, el subdiagnóstico del factor genético en las parejas remitidas y la necesidad de focalizar investigaciones futuras en la interpretación citogenética y asociación clínico-patológica de los mosaicismo de baja proporción en cromosomas sexuales con el aborto recurrente 2010-05-18 2010-05-18 2014-07-09T15:56:04Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://revistas.urosario.edu.co/index.php/revsalud/article/view/566 http://repository.urosario.edu.co/handle/10336/7489 spa http://creativecommons.org/licenses/by-nc/4.0 info:eu-repo/semantics/openAccess application/pdf Universidad del Rosario reponame:Repositorio Institucional EdocUR instname:Universidad del Rosario Revista Ciencias de la Salud; Vol. 4, núm. 2 (2006) Revista Ciencias de la Salud; Vol. 4, núm. 2 (2006) Revista Ciencias de la Salud; Vol. 4, núm. 2 (2006) 2145-4507 1692-7273
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