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dc.date.accessioned 2021-11-26T15:32:48Z
dc.date.available 2021-11-26T15:32:48Z
dc.date.issued 1998
dc.identifier.uri http://sedici.unlp.edu.ar/handle/10915/128728
dc.description.abstract 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. en
dc.format.extent 1-5 es
dc.language en es
dc.subject Chromosome es
dc.subject Cytogenetic es
dc.title Cytogenetic Characterization of an Extra Structurally Abnormal Chromosome Associated with Severe Mental Retardation: Inv Dup (15) (q13) en
dc.type Articulo es
sedici.identifier.other pmid:9868924 es
sedici.identifier.other doi:10.1111/j.1601-5223.1998.t01-1-00001.x es
sedici.identifier.issn 0018-0661 es
sedici.identifier.issn 1601-5223 es
sedici.creator.person Gorla, Nora es
sedici.creator.person Slavutsky, Irma es
sedici.creator.person Lisanti, José es
sedici.creator.person Pedrazzini, Estela Maris es
sedici.creator.person Vanella, Leonardo es
sedici.creator.person Larripa, Irene es
sedici.subject.materias Ciencias Médicas es
sedici.description.fulltext true es
mods.originInfo.place Facultad de Ciencias Exactas es
sedici.subtype Articulo es
sedici.rights.license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
sedici.rights.uri http://creativecommons.org/licenses/by-nc-sa/4.0/
sedici.description.peerReview peer-review es
sedici.relation.journalTitle Hereditas es
sedici.relation.journalVolumeAndIssue vol. 129, no. 1 es

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Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) Except where otherwise noted, this item's license is described as Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)