Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2010 |
| Outros Autores: | , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da UFBA |
| Texto Completo: | http://www.repositorio.ufba.br/ri/handle/ri/12727 |
Resumo: | Texto completo: acesso restrito. p.2074–2078 |
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Carvalho, Acácia Fernandes Lacerda deBellucco, Fernanda Teixeira da SilvaSantos, Normeide Pedreira dosPellegrino, RenataMoreira, Lília Maria de AzevedoToralles, Maria Betânia PereiraKulikowski, Leslie DomeniciMelaragno, Maria IsabelCarvalho, Acácia Fernandes Lacerda deBellucco, Fernanda Teixeira da SilvaSantos, Normeide Pedreira dosPellegrino, RenataMoreira, Lília Maria de AzevedoToralles, Maria Betânia PereiraKulikowski, Leslie DomeniciMelaragno, Maria Isabel2013-08-23T22:04:48Z20101552-4825http://www.repositorio.ufba.br/ri/handle/ri/12727v. 152, n. 8Texto completo: acesso restrito. p.2074–2078The 16q21 → qter duplication is a chromosomal abnormality rarely found in liveborn infants, with only four published cases. We report here on the 7-year follow-up of a female patient with trisomy 16q21 → qter due to a maternal balanced translocation t(4;16)(q35.2;q21). The patient shows severe mental retardation, congenital heart malformations, nephropathy, and other congenital anomalies. The derivative chromosome was characterized by GTG banding, fluorescent in situ hybridization (FISH) with different BAC probes and the array technique, in order to map the breakpoints. The patient has a 16q21 → qter duplication, with a 4q35 → qter monosomy, which we assume does not contribute to the abnormal phenotype. This is the first reported case of postnatal survival to the age of 7 years, an unusually long time in this chromosomal syndrome.Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-08-23T12:59:51Z No. of bitstreams: 1 Acácia Carvalho.pdf: 175934 bytes, checksum: 549fddc9814df418d5e77e39f0b6408c (MD5)Approved for entry into archive by Alda Lima da Silva(sivalda@ufba.br) on 2013-08-23T22:04:48Z (GMT) No. of bitstreams: 1 Acácia Carvalho.pdf: 175934 bytes, checksum: 549fddc9814df418d5e77e39f0b6408c (MD5)Made available in DSpace on 2013-08-23T22:04:48Z (GMT). No. of bitstreams: 1 Acácia Carvalho.pdf: 175934 bytes, checksum: 549fddc9814df418d5e77e39f0b6408c (MD5) Previous issue date: 2010http://dx.doi.org/10.1002/ajmg.a.33524reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBATrisomy 16qMonosomy 4qFISHArrayPhenotype–karyotype correlationTrisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survivalAmerican Journal of Medical Genetics Part Ainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01enginfo:eu-repo/semantics/openAccessORIGINALAcácia Carvalho.pdfAcácia Carvalho.pdfapplication/pdf175934https://repositorio.ufba.br/bitstream/ri/12727/1/Ac%c3%a1cia%20Carvalho.pdf549fddc9814df418d5e77e39f0b6408cMD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/12727/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXTAcácia Carvalho.pdf.txtAcácia Carvalho.pdf.txtExtracted texttext/plain19395https://repositorio.ufba.br/bitstream/ri/12727/3/Ac%c3%a1cia%20Carvalho.pdf.txt008bf4ee336d4c04a7c07d2462904b53MD53ri/127272022-07-05 14:02:49.73oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:02:49Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false |
| dc.title.pt_BR.fl_str_mv |
Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival |
| dc.title.alternative.pt_BR.fl_str_mv |
American Journal of Medical Genetics Part A |
| title |
Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival |
| spellingShingle |
Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival Carvalho, Acácia Fernandes Lacerda de Trisomy 16q Monosomy 4q FISH Array Phenotype–karyotype correlation |
| title_short |
Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival |
| title_full |
Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival |
| title_fullStr |
Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival |
| title_full_unstemmed |
Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival |
| title_sort |
Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival |
| author |
Carvalho, Acácia Fernandes Lacerda de |
| author_facet |
Carvalho, Acácia Fernandes Lacerda de Bellucco, Fernanda Teixeira da Silva Santos, Normeide Pedreira dos Pellegrino, Renata Moreira, Lília Maria de Azevedo Toralles, Maria Betânia Pereira Kulikowski, Leslie Domenici Melaragno, Maria Isabel |
| author_role |
author |
| author2 |
Bellucco, Fernanda Teixeira da Silva Santos, Normeide Pedreira dos Pellegrino, Renata Moreira, Lília Maria de Azevedo Toralles, Maria Betânia Pereira Kulikowski, Leslie Domenici Melaragno, Maria Isabel |
| author2_role |
author author author author author author author |
| dc.contributor.author.fl_str_mv |
Carvalho, Acácia Fernandes Lacerda de Bellucco, Fernanda Teixeira da Silva Santos, Normeide Pedreira dos Pellegrino, Renata Moreira, Lília Maria de Azevedo Toralles, Maria Betânia Pereira Kulikowski, Leslie Domenici Melaragno, Maria Isabel Carvalho, Acácia Fernandes Lacerda de Bellucco, Fernanda Teixeira da Silva Santos, Normeide Pedreira dos Pellegrino, Renata Moreira, Lília Maria de Azevedo Toralles, Maria Betânia Pereira Kulikowski, Leslie Domenici Melaragno, Maria Isabel |
| dc.subject.por.fl_str_mv |
Trisomy 16q Monosomy 4q FISH Array Phenotype–karyotype correlation |
| topic |
Trisomy 16q Monosomy 4q FISH Array Phenotype–karyotype correlation |
| description |
Texto completo: acesso restrito. p.2074–2078 |
| publishDate |
2010 |
| dc.date.issued.fl_str_mv |
2010 |
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2013-08-23T22:04:48Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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http://www.repositorio.ufba.br/ri/handle/ri/12727 |
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1552-4825 |
| dc.identifier.number.pt_BR.fl_str_mv |
v. 152, n. 8 |
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1552-4825 v. 152, n. 8 |
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http://www.repositorio.ufba.br/ri/handle/ri/12727 |
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eng |
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http://dx.doi.org/10.1002/ajmg.a.33524 |
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reponame:Repositório Institucional da UFBA instname:Universidade Federal da Bahia (UFBA) instacron:UFBA |
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