Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility

Autores
Siewert, Susana Elfrida; Della Vedova, Maria Cecilia; Coll, Silvana; Trigo, Monica; Marsa, Silvana
Año de publicación
2017
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
A balanced translocation between the short arm of chromosome 7 and the long arm ofchromosome 9 was observed in a pedigree of three carriers (proband, his daugtherand first cousin). In this study, the proband and first cousin have no infertilityproblems, they had phenotypically normal progeny but shows recurrent miscarriage.Cytogenetic analysis of metaphase chromosomes was performed, the karyotype of theproband carrier was determined as 46, XY, t(7;9)(7pter 7p12;9qter9q34::7p12 7qter). The study of this family is important because to ourknowledge there have not previous report with the same translocation, and it has beentransmitted through generations. In conclusion, the most striking finding was the nonexistence of unbalanced offspring after detecting a structural chromosomeabnormality in the parents. To understand the cytogenetic and clinical significance ofthis case the authors discuss the possible causes of recurrent miscarriage. Detection ofchromosomal abnormalities in spontaneous abortion materials is very important toclarify the causes of loss of pregnancy. The evaluation of the incidence of segregationproducts of balanced translocation in sperm nuclei of carriers can be evaluated byFISH, using the proper combination of probes, and will give patients more accurategenetic advice and helps to personalize the reproductive risk in male carriers ofbalanced translocation 7:9.
Fil: Siewert, Susana Elfrida. Universidad Nacional de San Luis. Facultad de Química, Bioquímica y Farmacia. Departamento de Bioquímica y Ciencias Biológicas. Area de Biología Molecular; Argentina
Fil: Della Vedova, Maria Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - San Luis. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis. Universidad Nacional de San Luis. Facultad de Ciencias Físico Matemáticas y Naturales. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis; Argentina
Fil: Coll, Silvana. Hospital Humberto Notti; Argentina
Fil: Trigo, Monica. Centro Medico Mitre; Argentina
Fil: Marsa, Silvana. Genes; Argentina
Materia
MISCARRIER
TRANSLOCATION
KARYOTYPE
PEDIGREE
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/64504
Acceder
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network_name_str CONICET Digital (CONICET)
spelling Recurrent miscarriage in a novel translocation 7:9 carriers with no infertilitySiewert, Susana ElfridaDella Vedova, Maria CeciliaColl, SilvanaTrigo, MonicaMarsa, SilvanaMISCARRIERTRANSLOCATIONKARYOTYPEPEDIGREEhttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3A balanced translocation between the short arm of chromosome 7 and the long arm ofchromosome 9 was observed in a pedigree of three carriers (proband, his daugtherand first cousin). In this study, the proband and first cousin have no infertilityproblems, they had phenotypically normal progeny but shows recurrent miscarriage.Cytogenetic analysis of metaphase chromosomes was performed, the karyotype of theproband carrier was determined as 46, XY, t(7;9)(7pter 7p12;9qter9q34::7p12 7qter). The study of this family is important because to ourknowledge there have not previous report with the same translocation, and it has beentransmitted through generations. In conclusion, the most striking finding was the nonexistence of unbalanced offspring after detecting a structural chromosomeabnormality in the parents. To understand the cytogenetic and clinical significance ofthis case the authors discuss the possible causes of recurrent miscarriage. Detection ofchromosomal abnormalities in spontaneous abortion materials is very important toclarify the causes of loss of pregnancy. The evaluation of the incidence of segregationproducts of balanced translocation in sperm nuclei of carriers can be evaluated byFISH, using the proper combination of probes, and will give patients more accurategenetic advice and helps to personalize the reproductive risk in male carriers ofbalanced translocation 7:9.Fil: Siewert, Susana Elfrida. Universidad Nacional de San Luis. Facultad de Química, Bioquímica y Farmacia. Departamento de Bioquímica y Ciencias Biológicas. Area de Biología Molecular; ArgentinaFil: Della Vedova, Maria Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - San Luis. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis. Universidad Nacional de San Luis. Facultad de Ciencias Físico Matemáticas y Naturales. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis; ArgentinaFil: Coll, Silvana. Hospital Humberto Notti; ArgentinaFil: Trigo, Monica. Centro Medico Mitre; ArgentinaFil: Marsa, Silvana. Genes; ArgentinaSomil Shah2017-12-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/64504Siewert, Susana Elfrida; Della Vedova, Maria Cecilia; Coll, Silvana; Trigo, Monica; Marsa, Silvana; Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility; Somil Shah ; Indian Journal of Medical Research and Pharmaceutical Sciences; 4; 12; 4-12-2017; 75-812349-5340CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.5281/zenodo.1133535info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:11:41Zoai:ri.conicet.gov.ar:11336/64504instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:11:41.553CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility
title Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility
spellingShingle Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility
Siewert, Susana Elfrida
MISCARRIER
TRANSLOCATION
KARYOTYPE
PEDIGREE
title_short Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility
title_full Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility
title_fullStr Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility
title_full_unstemmed Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility
title_sort Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility
dc.creator.none.fl_str_mv Siewert, Susana Elfrida
Della Vedova, Maria Cecilia
Coll, Silvana
Trigo, Monica
Marsa, Silvana
author Siewert, Susana Elfrida
author_facet Siewert, Susana Elfrida
Della Vedova, Maria Cecilia
Coll, Silvana
Trigo, Monica
Marsa, Silvana
author_role author
author2 Della Vedova, Maria Cecilia
Coll, Silvana
Trigo, Monica
Marsa, Silvana
author2_role author
author
author
author
dc.subject.none.fl_str_mv MISCARRIER
TRANSLOCATION
KARYOTYPE
PEDIGREE
topic MISCARRIER
TRANSLOCATION
KARYOTYPE
PEDIGREE
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv A balanced translocation between the short arm of chromosome 7 and the long arm ofchromosome 9 was observed in a pedigree of three carriers (proband, his daugtherand first cousin). In this study, the proband and first cousin have no infertilityproblems, they had phenotypically normal progeny but shows recurrent miscarriage.Cytogenetic analysis of metaphase chromosomes was performed, the karyotype of theproband carrier was determined as 46, XY, t(7;9)(7pter 7p12;9qter9q34::7p12 7qter). The study of this family is important because to ourknowledge there have not previous report with the same translocation, and it has beentransmitted through generations. In conclusion, the most striking finding was the nonexistence of unbalanced offspring after detecting a structural chromosomeabnormality in the parents. To understand the cytogenetic and clinical significance ofthis case the authors discuss the possible causes of recurrent miscarriage. Detection ofchromosomal abnormalities in spontaneous abortion materials is very important toclarify the causes of loss of pregnancy. The evaluation of the incidence of segregationproducts of balanced translocation in sperm nuclei of carriers can be evaluated byFISH, using the proper combination of probes, and will give patients more accurategenetic advice and helps to personalize the reproductive risk in male carriers ofbalanced translocation 7:9.
Fil: Siewert, Susana Elfrida. Universidad Nacional de San Luis. Facultad de Química, Bioquímica y Farmacia. Departamento de Bioquímica y Ciencias Biológicas. Area de Biología Molecular; Argentina
Fil: Della Vedova, Maria Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - San Luis. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis. Universidad Nacional de San Luis. Facultad de Ciencias Físico Matemáticas y Naturales. Instituto Multidisciplinario de Investigaciones Biológicas de San Luis; Argentina
Fil: Coll, Silvana. Hospital Humberto Notti; Argentina
Fil: Trigo, Monica. Centro Medico Mitre; Argentina
Fil: Marsa, Silvana. Genes; Argentina
description A balanced translocation between the short arm of chromosome 7 and the long arm ofchromosome 9 was observed in a pedigree of three carriers (proband, his daugtherand first cousin). In this study, the proband and first cousin have no infertilityproblems, they had phenotypically normal progeny but shows recurrent miscarriage.Cytogenetic analysis of metaphase chromosomes was performed, the karyotype of theproband carrier was determined as 46, XY, t(7;9)(7pter 7p12;9qter9q34::7p12 7qter). The study of this family is important because to ourknowledge there have not previous report with the same translocation, and it has beentransmitted through generations. In conclusion, the most striking finding was the nonexistence of unbalanced offspring after detecting a structural chromosomeabnormality in the parents. To understand the cytogenetic and clinical significance ofthis case the authors discuss the possible causes of recurrent miscarriage. Detection ofchromosomal abnormalities in spontaneous abortion materials is very important toclarify the causes of loss of pregnancy. The evaluation of the incidence of segregationproducts of balanced translocation in sperm nuclei of carriers can be evaluated byFISH, using the proper combination of probes, and will give patients more accurategenetic advice and helps to personalize the reproductive risk in male carriers ofbalanced translocation 7:9.
publishDate 2017
dc.date.none.fl_str_mv 2017-12-04
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/64504
Siewert, Susana Elfrida; Della Vedova, Maria Cecilia; Coll, Silvana; Trigo, Monica; Marsa, Silvana; Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility; Somil Shah ; Indian Journal of Medical Research and Pharmaceutical Sciences; 4; 12; 4-12-2017; 75-81
2349-5340
CONICET Digital
CONICET
url http://hdl.handle.net/11336/64504
identifier_str_mv Siewert, Susana Elfrida; Della Vedova, Maria Cecilia; Coll, Silvana; Trigo, Monica; Marsa, Silvana; Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility; Somil Shah ; Indian Journal of Medical Research and Pharmaceutical Sciences; 4; 12; 4-12-2017; 75-81
2349-5340
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.5281/zenodo.1133535
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Somil Shah
publisher.none.fl_str_mv Somil Shah
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1844614017655504896
score 13.070432

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