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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorCHEHIMI, Samar N.
dc.contributor.authorZANARDO, Evelin A.
dc.contributor.authorCERONI, Jose R. M.
dc.contributor.authorNASCIMENTO, Amom M.
dc.contributor.authorMADIA, Fabricia A. R.
dc.contributor.authorDIAS, Alexandre T.
dc.contributor.authorFILHO, Gil M. N.
dc.contributor.authorMONTENEGRO, Marlia M.
dc.contributor.authorDAMASCENO, Jullian
dc.contributor.authorCOSTA, Thas V. M. M.
dc.contributor.authorGASPARINI, Yanca
dc.contributor.authorKIM, Chong A.
dc.contributor.authorKULIKOWSKI, Leslie D.
dc.date.accessioned2020-03-24T15:00:06Z
dc.date.available2020-03-24T15:00:06Z
dc.date.issued2020
dc.identifier.citationMOLECULAR GENETICS & GENOMIC MEDICINE, v.8, n.2, article ID e957, 8p, 2020
dc.identifier.issn2324-9269
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/35705
dc.description.abstractBackground Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p-). The main clinical features include a high-pitched cry, facial asymmetry, microcephaly, round face at birth, epicanthal folds, hypotonia, delayed growth and development. Methods We studied 14 Brazilian patients with CdCS using genomic array in order to better define the 5p breakpoints and recognize copy number variations (CNVs) that contribute to clinical manifestations associated with the syndrome. Results Array confirmed terminal deletions in 13 patients and an interstitial deletion in one patient. It was also possible to map the breakpoints and associate a genomic region of 4.7 Mb to the development of head circumference and cat-like cry. We also found other CNVs concomitant to the 5p deletion including a 9p duplication, a 17q deletion, and a 22q deletion in three different patients. Conclusion With advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype-phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat-like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype-phenotype correlation to perform a complete clinical and molecular diagnosis.eng
dc.description.sponsorshipFAPESP (Fundacao de Amparo a Pesquisa do estado de Sao Paulo)Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2016/09452-0]
dc.description.sponsorshipFINEP (Financiadora de Estudos e Projetos)Ciencia Tecnologia e Inovacao (FINEP) [FINEP/CT-INFRA-01/2011]
dc.language.isoeng
dc.publisherWILEYeng
dc.relation.ispartofMolecular Genetics & Genomic Medicine
dc.rightsopenAccesseng
dc.subjectBrazilian patientseng
dc.subjectcri du chateng
dc.subjectcytogenomiceng
dc.subjectgenomic arrayeng
dc.subject.otherdu-chat-syndromeeng
dc.subject.othercat-like cryeng
dc.subject.otherdevelopmental delayeng
dc.subject.othercritical regioneng
dc.subject.other9p duplicationeng
dc.subject.otherphenotypeeng
dc.subject.otherdeletioneng
dc.subject.othertranslocationeng
dc.subject.otherepilepsyeng
dc.subject.otherarmeng
dc.titleBreakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cryeng
dc.typearticleeng
dc.rights.holderCopyright WILEYeng
dc.identifier.doi10.1002/mgg3.957
dc.identifier.pmid31568707
dc.subject.wosGenetics & Heredityeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
hcfmusp.description.articlenumbere957
hcfmusp.description.issue2
hcfmusp.description.volume8
hcfmusp.origemWOS
hcfmusp.origem.idWOS:000488791500001
hcfmusp.origem.id2-s2.0-85073956362
hcfmusp.publisher.cityHOBOKENeng
hcfmusp.publisher.countryUSAeng
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dc.description.indexMEDLINEeng
hcfmusp.citation.scopus2
hcfmusp.scopus.lastupdate2022-06-03-
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Artigos e Materiais de Revistas Científicas - FM/MPE
Departamento de Pediatria - FM/MPE

Artigos e Materiais de Revistas Científicas - LIM/03
LIM/03 - Laboratório de Medicina Laboratorial

Artigos e Materiais de Revistas Científicas - LIM/36
LIM/36 - Laboratório de Pediatria Clínica


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