Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)

We have studied an extra structually abnormal chromosome (ESAC) in a 13 years old boy with profound mental, psychomotor and speech retardation, behavioral problems, seizures and abnormal electroencephalogram. The examination of the bisatellited ESAC with chromosome banding demonstrated that the kary...

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Detalles Bibliográficos
Autores: Gorla, Nora, Slavutsky, Irma, Lisanti, José, Pedrazzini, Estela Maris, Vanella, Leonardo, Larripa, Irene
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:1998
País:Argentina
Institución:Universidad Nacional de La Plata
Repositorio:SEDICI (UNLP)
Idioma:inglés
OAI Identifier:oai:sedici.unlp.edu.ar:10915/128728
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/128728
Access Level:acceso abierto
Palabra clave:Ciencias Médicas
Chromosome
Cytogenetic
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spelling Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)Gorla, NoraSlavutsky, IrmaLisanti, JoséPedrazzini, Estela MarisVanella, LeonardoLarripa, IreneCiencias MédicasChromosomeCytogeneticWe have studied an extra structually abnormal chromosome (ESAC) in a 13 years old boy with profound mental, psychomotor and speech retardation, behavioral problems, seizures and abnormal electroencephalogram. The examination of the bisatellited ESAC with chromosome banding demonstrated that the karyotype was: 47, XY, +inv dup (15) (pter-->q13::q13-->pter). The cytogenetic characterization of the inv dup (15) is reported with special emphasis on the usefulness of DA/DAPI staining when G-banding is sequentially performed to discard possible heteromorphisms in DA/DAPI positive chromosomes, and the importance of Ag-NOR heteromorphisms to ascertain the maternal origin of the inv dup (15). A U-type exchange between two non-sister chromatids is proposed as its mechanism of formation. The clinical features of the case were consistent with those previously reported in similar cases.Facultad de Ciencias Exactas1998info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdf1-5http://sedici.unlp.edu.ar/handle/10915/128728enginfo:eu-repo/semantics/altIdentifier/issn/0018-0661info:eu-repo/semantics/altIdentifier/issn/1601-5223info:eu-repo/semantics/altIdentifier/pmid/9868924info:eu-repo/semantics/altIdentifier/doi/10.1111/j.1601-5223.1998.t01-1-00001.xinfo:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-sa/4.0/Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2024-05-08T13:09:29Zoai:sedici.unlp.edu.ar:10915/128728Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292024-05-08 13:09:29.725SEDICI (UNLP) - Universidad Nacional de La Platafalse
dc.title.none.fl_str_mv Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
title Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
spellingShingle Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
Gorla, Nora
Ciencias Médicas
Chromosome
Cytogenetic
title_short Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
title_full Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
title_fullStr Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
title_full_unstemmed Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
title_sort Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13)
dc.creator.none.fl_str_mv Gorla, Nora
Slavutsky, Irma
Lisanti, José
Pedrazzini, Estela Maris
Vanella, Leonardo
Larripa, Irene
author Gorla, Nora
author_facet Gorla, Nora
Slavutsky, Irma
Lisanti, José
Pedrazzini, Estela Maris
Vanella, Leonardo
Larripa, Irene
author_role author
author2 Slavutsky, Irma
Lisanti, José
Pedrazzini, Estela Maris
Vanella, Leonardo
Larripa, Irene
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Ciencias Médicas
Chromosome
Cytogenetic
topic Ciencias Médicas
Chromosome
Cytogenetic
description We have studied an extra structually abnormal chromosome (ESAC) in a 13 years old boy with profound mental, psychomotor and speech retardation, behavioral problems, seizures and abnormal electroencephalogram. The examination of the bisatellited ESAC with chromosome banding demonstrated that the karyotype was: 47, XY, +inv dup (15) (pter-->q13::q13-->pter). The cytogenetic characterization of the inv dup (15) is reported with special emphasis on the usefulness of DA/DAPI staining when G-banding is sequentially performed to discard possible heteromorphisms in DA/DAPI positive chromosomes, and the importance of Ag-NOR heteromorphisms to ascertain the maternal origin of the inv dup (15). A U-type exchange between two non-sister chromatids is proposed as its mechanism of formation. The clinical features of the case were consistent with those previously reported in similar cases.
publishDate 1998
dc.date.none.fl_str_mv 1998
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/128728
url http://sedici.unlp.edu.ar/handle/10915/128728
dc.language.none.fl_str_mv eng
language eng
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info:eu-repo/semantics/altIdentifier/issn/1601-5223
info:eu-repo/semantics/altIdentifier/pmid/9868924
info:eu-repo/semantics/altIdentifier/doi/10.1111/j.1601-5223.1998.t01-1-00001.x
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
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rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
dc.format.none.fl_str_mv application/pdf
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dc.source.none.fl_str_mv reponame:SEDICI (UNLP)
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