New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl

Detalhes bibliográficos
Autor(a) principal: Moreira, Lília Maria De Azevedo
Data de Publicação: 2003
Outros Autores: Freitas, Lucy Magalhães, Gusmão, Fábio Alexandre Ferreira, Riegel, Mariluce
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/14684
Resumo: Texto completo: acesso restrito. p. 985–988
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spelling Moreira, Lília Maria De AzevedoFreitas, Lucy MagalhãesGusmão, Fábio Alexandre FerreiraRiegel, MariluceMoreira, Lília Maria De AzevedoFreitas, Lucy MagalhãesGusmão, Fábio Alexandre FerreiraRiegel, Mariluce2014-02-21T19:01:53Z20031542-0752http://repositorio.ufba.br/ri/handle/ri/14684v. 67, n. 12Texto completo: acesso restrito. p. 985–988The phenotypic expression of an additional chromosome 9 causes a very broad clinical spectrum of anomalies. The prognosis for infants with non-mosaic tetrasomy 9p is poor, and they usually die at a very early age. CASE: In this article we present a new case of complete tetrasomy 9p in a newborn girl with multiple dysmorphologic features. Cytogenetic studies were carried out by CBG, GTG, and QFQ chromosome bandings, as well as by fluorescence in situ hybridization (FISH). The cytogenetic findings for the newborn girl showed an extra chromosome interpreted as an isochromosome 9p. The karyotype was characterized as 47,XX, mar.ish i(9)(p10)(wcp9 ). The parental chromosomes were normal. CONCLUSIONS: The karyotype and clinical features of the newborn girl (e.g., typical craniofacial dysmorphism, severe skeletal anomalies, and visceral and genito-urinary malformations), compared with cases reported in the literature, give additional support to a clinical definition of this chromosomal syndrome. Birth Defects Research (Part A) 67:985–988 , 2003.Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2013-12-09T14:50:37Z No. of bitstreams: 1 Lília Maria de Azevedo Moreira.pdf: 108787 bytes, checksum: 85719e511036a43b7511606194562635 (MD5)Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2014-01-08T10:28:06Z No. of bitstreams: 1 Lília Maria de Azevedo Moreira.pdf: 108787 bytes, checksum: 85719e511036a43b7511606194562635 (MD5)Approved for entry into archive by Alda Lima da Silva (sivalda@ufba.br) on 2014-02-21T19:01:53Z (GMT) No. of bitstreams: 1 Lília Maria de Azevedo Moreira.pdf: 108787 bytes, checksum: 85719e511036a43b7511606194562635 (MD5)Made available in DSpace on 2014-02-21T19:01:53Z (GMT). No. of bitstreams: 1 Lília Maria de Azevedo Moreira.pdf: 108787 bytes, checksum: 85719e511036a43b7511606194562635 (MD5) Previous issue date: 2003http://dx.doi.org/ 10.1002/bdra.10126reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBANon-mosaic tetrasomy 9p;Multiple congenital anomalies;Advanced maternal ageNew case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girlBirth Defects Research Part A: Clinical and Molecular Teratologyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengLICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/14684/2/license.txtff6eaa8b858ea317fded99f125f5fcd0MD52ORIGINALLília Maria de Azevedo Moreira.pdfLília Maria de Azevedo Moreira.pdfapplication/pdf108787https://repositorio.ufba.br/bitstream/ri/14684/1/L%c3%adlia%20Maria%20de%20Azevedo%20Moreira.pdf85719e511036a43b7511606194562635MD51TEXTLília Maria de Azevedo Moreira.pdf.txtLília Maria de Azevedo Moreira.pdf.txtExtracted texttext/plain16884https://repositorio.ufba.br/bitstream/ri/14684/3/L%c3%adlia%20Maria%20de%20Azevedo%20Moreira.pdf.txt453d3da8b3efe4d94bebb4404ae79e92MD53ri/146842022-07-05 14:03:06.993oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:06Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
dc.title.alternative.pt_BR.fl_str_mv Birth Defects Research Part A: Clinical and Molecular Teratology
title New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
spellingShingle New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
Moreira, Lília Maria De Azevedo
Non-mosaic tetrasomy 9p;
Multiple congenital anomalies;
Advanced maternal age
title_short New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
title_full New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
title_fullStr New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
title_full_unstemmed New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
title_sort New case of non-mosaic tetrasomy 9p in a severely polymalformed newborn girl
author Moreira, Lília Maria De Azevedo
author_facet Moreira, Lília Maria De Azevedo
Freitas, Lucy Magalhães
Gusmão, Fábio Alexandre Ferreira
Riegel, Mariluce
author_role author
author2 Freitas, Lucy Magalhães
Gusmão, Fábio Alexandre Ferreira
Riegel, Mariluce
author2_role author
author
author
dc.contributor.author.fl_str_mv Moreira, Lília Maria De Azevedo
Freitas, Lucy Magalhães
Gusmão, Fábio Alexandre Ferreira
Riegel, Mariluce
Moreira, Lília Maria De Azevedo
Freitas, Lucy Magalhães
Gusmão, Fábio Alexandre Ferreira
Riegel, Mariluce
dc.subject.por.fl_str_mv Non-mosaic tetrasomy 9p;
Multiple congenital anomalies;
Advanced maternal age
topic Non-mosaic tetrasomy 9p;
Multiple congenital anomalies;
Advanced maternal age
description Texto completo: acesso restrito. p. 985–988
publishDate 2003
dc.date.issued.fl_str_mv 2003
dc.date.accessioned.fl_str_mv 2014-02-21T19:01:53Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/14684
dc.identifier.issn.none.fl_str_mv 1542-0752
dc.identifier.number.pt_BR.fl_str_mv v. 67, n. 12
identifier_str_mv 1542-0752
v. 67, n. 12
url http://repositorio.ufba.br/ri/handle/ri/14684
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.source.pt_BR.fl_str_mv http://dx.doi.org/ 10.1002/bdra.10126
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