Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)

Detalhes bibliográficos
Autor(a) principal: Moreira, Lilia
Data de Publicação: 2010
Outros Autores: Schinzel, Albert, Baumer, Alessandra, Pinto, Paula, Góes, Fátima, Falcão, Maria de Lourdes Lima, Barbosa, Ana Luiza, Riegel, Mariluce
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://www.repositorio.ufba.br/ri/handle/ri/12819
Resumo: Texto completo: acesso restrito. p.977-981
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spelling Moreira, LiliaSchinzel, AlbertBaumer, AlessandraPinto, PaulaGóes, FátimaFalcão, Maria de Lourdes LimaBarbosa, Ana LuizaRiegel, MariluceMoreira, LiliaSchinzel, AlbertBaumer, AlessandraPinto, PaulaGóes, FátimaFalcão, Maria de Lourdes LimaBarbosa, Ana LuizaRiegel, Mariluce2013-09-03T17:58:47Z20101552-4825http://www.repositorio.ufba.br/ri/handle/ri/12819v. 152, n. 4Texto completo: acesso restrito. p.977-981Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of the band 4q25 to which the homeobox gene PIT X2 (former RIEG) was mapped. To study the natural history and perform a genotype–phenotype correlation, we followed a girl with RS from the age of 1 year to puberty. The study included physical examination, clinical and psychological evaluation, and cytogenetic analysis with GTG-banded karyotype and array CGH. Additionally, molecular analysis using microsatellite markers for chromosome 4 (D4S427, D4S194 and D4S1615) was performed. Conventional chromosome analysis showed a 4q deletion, and aCGH confirmed the determination of the breakpoints at 4q25 and 4q31. With the exception of the typical features of RS is the patient, the clinical manifestations were relatively mild, despite the relatively large size of the deleted chromosome segment. The patient was periodically re-evaluated for several years. The teeth are still abnormal, and she is still under orthodontic treatment. The facial features were attenuated with age. Currently, she is under constant monitoring of eye pressure. She benefited from early intervention program, and her tonus is normal. She attends a normal school with minor learning difficulties. In conclusion, this study offers a comprehensive phenotypic delineation of RS through almost two decades and may contribute to a more accurate genetic counseling in cases of this syndrome.Submitted by Suelen Reis (suziy.ellen@gmail.com) on 2013-09-03T15:34:04Z No. of bitstreams: 1 33322_ftp-1.pdf: 243343 bytes, checksum: 275341eee3ad38e8ed8498730ee0e5b8 (MD5)Approved for entry into archive by Alda Lima da Silva(sivalda@ufba.br) on 2013-09-03T17:58:46Z (GMT) No. of bitstreams: 1 33322_ftp-1.pdf: 243343 bytes, checksum: 275341eee3ad38e8ed8498730ee0e5b8 (MD5)Made available in DSpace on 2013-09-03T17:58:47Z (GMT). No. of bitstreams: 1 33322_ftp-1.pdf: 243343 bytes, checksum: 275341eee3ad38e8ed8498730ee0e5b8 (MD5) Previous issue date: 2010http://dx.doi.org/10.1002/ajmg.a.33322reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBARieger syndromeDel 4q25–q31.1Iris developmentOrthodontic rehabilitationMCA/MR syndromeFollow-up studyaCGHLongitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)American Journal of Medical Genetics Part Ainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01enginfo:eu-repo/semantics/openAccessORIGINAL33322_ftp-1.pdf33322_ftp-1.pdfapplication/pdf243343https://repositorio.ufba.br/bitstream/ri/12819/1/33322_ftp-1.pdf275341eee3ad38e8ed8498730ee0e5b8MD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/12819/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXT33322_ftp-1.pdf.txt33322_ftp-1.pdf.txtExtracted texttext/plain19251https://repositorio.ufba.br/bitstream/ri/12819/3/33322_ftp-1.pdf.txt2726cb17fb0c4ffd7c9e30e60418b2d3MD53ri/128192022-07-05 14:03:32.501oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:32Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)
dc.title.alternative.pt_BR.fl_str_mv American Journal of Medical Genetics Part A
title Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)
spellingShingle Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)
Moreira, Lilia
Rieger syndrome
Del 4q25–q31.1
Iris development
Orthodontic rehabilitation
MCA/MR syndrome
Follow-up study
aCGH
title_short Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)
title_full Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)
title_fullStr Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)
title_full_unstemmed Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)
title_sort Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)
author Moreira, Lilia
author_facet Moreira, Lilia
Schinzel, Albert
Baumer, Alessandra
Pinto, Paula
Góes, Fátima
Falcão, Maria de Lourdes Lima
Barbosa, Ana Luiza
Riegel, Mariluce
author_role author
author2 Schinzel, Albert
Baumer, Alessandra
Pinto, Paula
Góes, Fátima
Falcão, Maria de Lourdes Lima
Barbosa, Ana Luiza
Riegel, Mariluce
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Moreira, Lilia
Schinzel, Albert
Baumer, Alessandra
Pinto, Paula
Góes, Fátima
Falcão, Maria de Lourdes Lima
Barbosa, Ana Luiza
Riegel, Mariluce
Moreira, Lilia
Schinzel, Albert
Baumer, Alessandra
Pinto, Paula
Góes, Fátima
Falcão, Maria de Lourdes Lima
Barbosa, Ana Luiza
Riegel, Mariluce
dc.subject.por.fl_str_mv Rieger syndrome
Del 4q25–q31.1
Iris development
Orthodontic rehabilitation
MCA/MR syndrome
Follow-up study
aCGH
topic Rieger syndrome
Del 4q25–q31.1
Iris development
Orthodontic rehabilitation
MCA/MR syndrome
Follow-up study
aCGH
description Texto completo: acesso restrito. p.977-981
publishDate 2010
dc.date.issued.fl_str_mv 2010
dc.date.accessioned.fl_str_mv 2013-09-03T17:58:47Z
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.repositorio.ufba.br/ri/handle/ri/12819
dc.identifier.issn.none.fl_str_mv 1552-4825
dc.identifier.number.pt_BR.fl_str_mv v. 152, n. 4
identifier_str_mv 1552-4825
v. 152, n. 4
url http://www.repositorio.ufba.br/ri/handle/ri/12819
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.pt_BR.fl_str_mv http://dx.doi.org/10.1002/ajmg.a.33322
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