A case of terminal long arm deletion of chromosome 6

Detalhes bibliográficos
Autor(a) principal: Tajara, E. H.
Data de Publicação: 1990
Outros Autores: Varella-Garcia, M., Gusson, A. C T
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://www.gmb.org.br/Revistas/V13/v13a31.pdf
http://hdl.handle.net/11449/64009
Resumo: A four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck and cardiopathy.
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spelling A case of terminal long arm deletion of chromosome 6case reportchromosome 6chromosome deletionfemalegrowth retardationhumanhuman cellpreschool childpsychomotor retardationA four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck and cardiopathy.Universidade Estadual Paulista (Unesp)Tajara, E. H.Varella-Garcia, M.Gusson, A. C T2014-05-27T09:25:03Z2014-05-27T09:25:03Z1990-10-02info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article347-351application/pdfhttp://www.gmb.org.br/Revistas/V13/v13a31.pdfRevista Brasileira de Genetica, v. 13, n. 2, p. 347-351, 1990.0100-8455http://hdl.handle.net/11449/640092-s2.0-00250484062-s2.0-0025048406.pdfScopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengRevista Brasileira de Genéticainfo:eu-repo/semantics/openAccess2023-11-22T06:19:07Zoai:repositorio.unesp.br:11449/64009Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T18:27:46.952673Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv A case of terminal long arm deletion of chromosome 6
title A case of terminal long arm deletion of chromosome 6
spellingShingle A case of terminal long arm deletion of chromosome 6
Tajara, E. H.
case report
chromosome 6
chromosome deletion
female
growth retardation
human
human cell
preschool child
psychomotor retardation
title_short A case of terminal long arm deletion of chromosome 6
title_full A case of terminal long arm deletion of chromosome 6
title_fullStr A case of terminal long arm deletion of chromosome 6
title_full_unstemmed A case of terminal long arm deletion of chromosome 6
title_sort A case of terminal long arm deletion of chromosome 6
author Tajara, E. H.
author_facet Tajara, E. H.
Varella-Garcia, M.
Gusson, A. C T
author_role author
author2 Varella-Garcia, M.
Gusson, A. C T
author2_role author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (Unesp)
dc.contributor.author.fl_str_mv Tajara, E. H.
Varella-Garcia, M.
Gusson, A. C T
dc.subject.por.fl_str_mv case report
chromosome 6
chromosome deletion
female
growth retardation
human
human cell
preschool child
psychomotor retardation
topic case report
chromosome 6
chromosome deletion
female
growth retardation
human
human cell
preschool child
psychomotor retardation
description A four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck and cardiopathy.
publishDate 1990
dc.date.none.fl_str_mv 1990-10-02
2014-05-27T09:25:03Z
2014-05-27T09:25:03Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://www.gmb.org.br/Revistas/V13/v13a31.pdf
Revista Brasileira de Genetica, v. 13, n. 2, p. 347-351, 1990.
0100-8455
http://hdl.handle.net/11449/64009
2-s2.0-0025048406
2-s2.0-0025048406.pdf
url http://www.gmb.org.br/Revistas/V13/v13a31.pdf
http://hdl.handle.net/11449/64009
identifier_str_mv Revista Brasileira de Genetica, v. 13, n. 2, p. 347-351, 1990.
0100-8455
2-s2.0-0025048406
2-s2.0-0025048406.pdf
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Revista Brasileira de Genética
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 347-351
application/pdf
dc.source.none.fl_str_mv Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
_version_ 1808128935518535680

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