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Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype

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dc.creatorVergara-Mendez L.D.spa
dc.creatorTalero Gutiérrez, Claudiaspa
dc.creatorVélez van Meerbeke, Alberto Franciscospa
dc.date.accessioned2020-05-25T23:56:11Z
dc.date.available2020-05-25T23:56:11Z
dc.date.created2018spa
dc.description.abstractWe describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down’s syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al.2008; Li et al.2004; Park et al.1995; Day et al.1963). © 2018, Indian Academy of Sciences.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1007/s12041-018-0916-x
dc.identifier.issn09737731
dc.identifier.issn00221333
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22353
dc.language.isoengspa
dc.publisherSpringerspa
dc.relation.citationEndPage340
dc.relation.citationIssueNo. 1
dc.relation.citationStartPage337
dc.relation.citationTitleJournal of Genetics
dc.relation.citationVolumeVol. 97
dc.relation.ispartofJournal of Genetics, ISSN:09737731, 00221333, Vol.97, No.1 (2018); pp. 337-340spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85044066279&doi=10.1007%2fs12041-018-0916-x&partnerID=40&md5=c03991bfe9db75e7795885cbaac1a7b1spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordBloodspa
dc.subject.keywordChildspa
dc.subject.keywordDown syndromespa
dc.subject.keywordFaciesspa
dc.subject.keywordFemalespa
dc.subject.keywordGeneticsspa
dc.subject.keywordHearing testspa
dc.subject.keywordHumanspa
dc.subject.keywordKaryotypingspa
dc.subject.keywordPhenotypespa
dc.subject.keywordTrisomyspa
dc.subject.keywordChildspa
dc.subject.keywordDown syndromespa
dc.subject.keywordFaciesspa
dc.subject.keywordFemalespa
dc.subject.keywordHearing testsspa
dc.subject.keywordHumansspa
dc.subject.keywordKaryotypingspa
dc.subject.keywordPhenotypespa
dc.subject.keywordTrisomyspa
dc.subject.keywordDevelopmental delayspa
dc.subject.keywordDouble trisomyspa
dc.subject.keywordDown’s syndromespa
dc.subject.keywordTriple x syndromespa
dc.titleDouble trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotypespa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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