Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
Autor(a) principal: | |
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Data de Publicação: | 2003 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/handle/11600/27258 http://dx.doi.org/10.1002/ajmg.a.10198 |
Resumo: | Recent publications described two patients with a CFC-like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000,2002]. the patients did not have the classical CFC phenotype and presented other signs not usually seen in CFC patients: the first patient had hydrocephalus, and the second, a history of olygohydramnios, normal stature, pyloric stenosis, cutaneous syndactyly of toes and bilateral transverse palmar creases. in order to verify if classic CFC patients with normal chromosomes in conventional preparations have microdeletions within the 12q21.2q22 chromosome region, we performed FISH analysis using 12 BAC probes to screen this area. the average interval between the probes was of approximately 1 Mb. No deletions were found in any of the 17 classical CFC patients we examined. We conclude that the region 12q21.2q22 is not a candidate region for CFC syndrome and that the patients described by Rauen et al. [2000, 2002] probably have a different condition, i.e., an aneuploidy syndrome, with some phenotypic resemblance to the CFC syndrome. To further evaluate the possibility of other chromosome imbalances, we performed a subtelomeric analysis, by FISH technique, of all chromosomes, and did not find any subtelomeric rearrangements. (C) 2003 Wiley-Liss, Inc. |
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Kavamura, Maria Ines [UNIFESP]Zollino, M.Lecce, R.Murdolo, M.Brunoni, Decio [UNIFESP]Alchorne, Maurício Mota de Avelar [UNIFESP]Opitz, J. M.Neri, G.Univ UtahUniversidade Federal de São Paulo (UNIFESP)Univ Cattolica Sacro Cuore2016-01-24T12:33:51Z2016-01-24T12:33:51Z2003-06-01American Journal of Medical Genetics Part A. New York: Wiley-liss, v. 119A, n. 2, p. 177-179, 2003.0148-7299http://repositorio.unifesp.br/handle/11600/27258http://dx.doi.org/10.1002/ajmg.a.1019810.1002/ajmg.a.10198WOS:000182930600014Recent publications described two patients with a CFC-like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000,2002]. the patients did not have the classical CFC phenotype and presented other signs not usually seen in CFC patients: the first patient had hydrocephalus, and the second, a history of olygohydramnios, normal stature, pyloric stenosis, cutaneous syndactyly of toes and bilateral transverse palmar creases. in order to verify if classic CFC patients with normal chromosomes in conventional preparations have microdeletions within the 12q21.2q22 chromosome region, we performed FISH analysis using 12 BAC probes to screen this area. the average interval between the probes was of approximately 1 Mb. No deletions were found in any of the 17 classical CFC patients we examined. We conclude that the region 12q21.2q22 is not a candidate region for CFC syndrome and that the patients described by Rauen et al. [2000, 2002] probably have a different condition, i.e., an aneuploidy syndrome, with some phenotypic resemblance to the CFC syndrome. To further evaluate the possibility of other chromosome imbalances, we performed a subtelomeric analysis, by FISH technique, of all chromosomes, and did not find any subtelomeric rearrangements. (C) 2003 Wiley-Liss, Inc.Univ Utah, Salt Lake City, UT USAUniversidade Federal de São Paulo, Escola Paulista Med, Dept Dermatol, São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Ctr Genet Med, São Paulo, BrazilUniv Cattolica Sacro Cuore, Ist Genet Med, Rome, ItalyUniversidade Federal de São Paulo, Escola Paulista Med, Dept Dermatol, São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Ctr Genet Med, São Paulo, BrazilWeb of Science177-179engWiley-BlackwellAmerican Journal of Medical Genetics Part Ahttp://olabout.wiley.com/WileyCDA/Section/id-406071.htmlinfo:eu-repo/semantics/openAccesscardiofaciocutaneous syndromeCFC syndromechromosome 12subtelomeric regionsAbsence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patientsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlereponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP11600/272582023-01-30 22:19:12.796metadata only accessoai:repositorio.unifesp.br:11600/27258Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-01-31T01:19:12Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients |
title |
Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients |
spellingShingle |
Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients Kavamura, Maria Ines [UNIFESP] cardiofaciocutaneous syndrome CFC syndrome chromosome 12 subtelomeric regions |
title_short |
Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients |
title_full |
Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients |
title_fullStr |
Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients |
title_full_unstemmed |
Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients |
title_sort |
Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients |
author |
Kavamura, Maria Ines [UNIFESP] |
author_facet |
Kavamura, Maria Ines [UNIFESP] Zollino, M. Lecce, R. Murdolo, M. Brunoni, Decio [UNIFESP] Alchorne, Maurício Mota de Avelar [UNIFESP] Opitz, J. M. Neri, G. |
author_role |
author |
author2 |
Zollino, M. Lecce, R. Murdolo, M. Brunoni, Decio [UNIFESP] Alchorne, Maurício Mota de Avelar [UNIFESP] Opitz, J. M. Neri, G. |
author2_role |
author author author author author author author |
dc.contributor.institution.none.fl_str_mv |
Univ Utah Universidade Federal de São Paulo (UNIFESP) Univ Cattolica Sacro Cuore |
dc.contributor.author.fl_str_mv |
Kavamura, Maria Ines [UNIFESP] Zollino, M. Lecce, R. Murdolo, M. Brunoni, Decio [UNIFESP] Alchorne, Maurício Mota de Avelar [UNIFESP] Opitz, J. M. Neri, G. |
dc.subject.eng.fl_str_mv |
cardiofaciocutaneous syndrome CFC syndrome chromosome 12 subtelomeric regions |
topic |
cardiofaciocutaneous syndrome CFC syndrome chromosome 12 subtelomeric regions |
description |
Recent publications described two patients with a CFC-like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000,2002]. the patients did not have the classical CFC phenotype and presented other signs not usually seen in CFC patients: the first patient had hydrocephalus, and the second, a history of olygohydramnios, normal stature, pyloric stenosis, cutaneous syndactyly of toes and bilateral transverse palmar creases. in order to verify if classic CFC patients with normal chromosomes in conventional preparations have microdeletions within the 12q21.2q22 chromosome region, we performed FISH analysis using 12 BAC probes to screen this area. the average interval between the probes was of approximately 1 Mb. No deletions were found in any of the 17 classical CFC patients we examined. We conclude that the region 12q21.2q22 is not a candidate region for CFC syndrome and that the patients described by Rauen et al. [2000, 2002] probably have a different condition, i.e., an aneuploidy syndrome, with some phenotypic resemblance to the CFC syndrome. To further evaluate the possibility of other chromosome imbalances, we performed a subtelomeric analysis, by FISH technique, of all chromosomes, and did not find any subtelomeric rearrangements. (C) 2003 Wiley-Liss, Inc. |
publishDate |
2003 |
dc.date.issued.fl_str_mv |
2003-06-01 |
dc.date.accessioned.fl_str_mv |
2016-01-24T12:33:51Z |
dc.date.available.fl_str_mv |
2016-01-24T12:33:51Z |
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.citation.fl_str_mv |
American Journal of Medical Genetics Part A. New York: Wiley-liss, v. 119A, n. 2, p. 177-179, 2003. |
dc.identifier.uri.fl_str_mv |
http://repositorio.unifesp.br/handle/11600/27258 http://dx.doi.org/10.1002/ajmg.a.10198 |
dc.identifier.issn.none.fl_str_mv |
0148-7299 |
dc.identifier.doi.none.fl_str_mv |
10.1002/ajmg.a.10198 |
dc.identifier.wos.none.fl_str_mv |
WOS:000182930600014 |
identifier_str_mv |
American Journal of Medical Genetics Part A. New York: Wiley-liss, v. 119A, n. 2, p. 177-179, 2003. 0148-7299 10.1002/ajmg.a.10198 WOS:000182930600014 |
url |
http://repositorio.unifesp.br/handle/11600/27258 http://dx.doi.org/10.1002/ajmg.a.10198 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.none.fl_str_mv |
American Journal of Medical Genetics Part A |
dc.rights.driver.fl_str_mv |
http://olabout.wiley.com/WileyCDA/Section/id-406071.html info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
http://olabout.wiley.com/WileyCDA/Section/id-406071.html |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
177-179 |
dc.publisher.none.fl_str_mv |
Wiley-Blackwell |
publisher.none.fl_str_mv |
Wiley-Blackwell |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
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UNIFESP |
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UNIFESP |
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Repositório Institucional da UNIFESP |
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Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
|
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1802764281672892416 |