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dc.contributor.author
Siewert, Susana Elfrida
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dc.contributor.author
Della Vedova, Maria Cecilia
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dc.contributor.author
Coll, Silvana
dc.contributor.author
Trigo, Monica
dc.contributor.author
Marsa, Silvana
dc.date.available
2018-11-14T18:57:39Z
dc.date.issued
2017-12-04
dc.identifier.citation
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
dc.identifier.issn
2349-5340
dc.identifier.uri
http://hdl.handle.net/11336/64504
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Somil Shah
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Miscarrier
dc.subject
Translocation
dc.subject
Karyotype
dc.subject
Pedigree
dc.subject.classification
Inmunología
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dc.subject.classification
Medicina Básica
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Recurrent miscarriage in a novel translocation 7:9 carriers with no infertility
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-10-23T17:41:49Z
dc.journal.volume
4
dc.journal.number
12
dc.journal.pagination
75-81
dc.journal.pais
India
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dc.description.fil
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
dc.description.fil
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
dc.description.fil
Fil: Coll, Silvana. Hospital Humberto Notti; Argentina
dc.description.fil
Fil: Trigo, Monica. Centro Medico Mitre; Argentina
dc.description.fil
Fil: Marsa, Silvana. Genes; Argentina
dc.journal.title
Indian Journal of Medical Research and Pharmaceutical Sciences
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.5281/zenodo.1133535
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