Please use this identifier to cite or link to this item:
Full metadata record
DC FieldValueLanguage
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.identifier.citationMOLECULAR GENETICS & GENOMIC MEDICINE, v.8, n.2, article ID e957, 8p, 2020
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.relation.ispartofMolecular Genetics & Genomic Medicine
dc.subjectBrazilian patientseng
dc.subjectcri du chateng
dc.subjectgenomic arrayeng
dc.subject.othercat-like cryeng
dc.subject.otherdevelopmental delayeng
dc.subject.othercritical regioneng
dc.subject.other9p duplicationeng
dc.titleBreakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cryeng
dc.rights.holderCopyright WILEYeng
dc.subject.wosGenetics & Heredityeng
dc.type.categoryoriginal articleeng
hcfmusp.relation.referenceBallif BC, 2004, HUM GENET, V114, P198, DOI 10.1007/s00439-003-1029-yeng
hcfmusp.relation.referenceDuan YT, 2014, ELIFE, V3, DOI 10.7554/eLife.04390eng
hcfmusp.relation.referenceElmakky A, 2014, EUR J MED GENET, V57, P145, DOI 10.1016/j.ejmg.2014.02.005eng
hcfmusp.relation.referenceSanto LDE, 2016, BIOMED RES INT, DOI 10.1155/2016/5467083eng
hcfmusp.relation.referenceGERSH M, 1995, AM J HUM GENET, V56, P1404eng
hcfmusp.relation.referenceKearney HM, 2011, GENET MED, V13, P680, DOI 10.1097/GIM.0b013e3182217a3aeng
hcfmusp.relation.referenceKondoh T, 2005, J HUM GENET, V50, P26, DOI 10.1007/s10038-004-0213-9eng
hcfmusp.relation.referenceKuang DB, 2017, J CLIN PHARM THER, V42, P554, DOI 10.1111/jcpt.12549eng
hcfmusp.relation.referenceLincoln-de-Carvalho CR, 2011, AM J MED GENET A, V155A, P450, DOI 10.1002/ajmg.a.33458eng
hcfmusp.relation.referenceMainardi PC, 2006, EUR J MED GENET, V49, P363, DOI 10.1016/j.ejmg.2005.12.004eng
hcfmusp.relation.referenceMainardi PC, 2001, J MED GENET, V38, P151, DOI 10.1136/jmg.38.3.151eng
hcfmusp.relation.referenceMarinescu RC, 2000, AM J MED GENET, V94, P153, DOI 10.1002/1096-8628(20000911)94:2<153::AID-AJMG8>3.0.CO;2-#eng
hcfmusp.relation.referenceMarinescu RC, 1999, AM J MED GENET, V86, P66, DOI 10.1002/(SICI)1096-8628(19990903)86:1<66::AID-AJMG13>3.0.CO;2-Neng
hcfmusp.relation.referenceMarinescu RC, 1999, CLIN GENET, V56, P282eng
hcfmusp.relation.referenceMedina M, 2000, GENOMICS, V63, P157, DOI 10.1006/geno.1999.6090eng
hcfmusp.relation.referenceNakagami Y, 2015, EPILEPTIC DISORD, V17, P485, DOI 10.1684/epd.2015.0780eng
hcfmusp.relation.referenceNakayama T, 2012, SEIZURE-EUR J EPILEP, V21, P295, DOI 10.1016/j.seizure.2012.01.002eng
hcfmusp.relation.referenceNguyen JM, 2015, AM J MED GENET C, V169, P224, DOI 10.1002/ajmg.c.31444eng
hcfmusp.relation.referenceNIEBUHR E, 1978, HUM GENET, V44, P227, DOI 10.1007/BF00394291eng
hcfmusp.relation.referenceOVERHAUSER J, 1994, HUM MOL GENET, V3, P247, DOI 10.1093/hmg/3.2.247eng
hcfmusp.relation.referenceStern JM, 1996, NEUROLOGY, V47, P821, DOI 10.1212/WNL.47.3.821eng
hcfmusp.relation.referenceVan Buggenhout GJCM, 2000, AM J MED GENET, V90, P203, DOI 10.1002/(SICI)1096-8628(20000131)90:3<203::AID-AJMG5>3.0.CO;2-Aeng
hcfmusp.relation.referenceWu QF, 2005, EUR J HUM GENET, V13, P475, DOI 10.1038/sj.ejhg.5201345eng
hcfmusp.relation.referenceYokoyama E, 2018, MOL CYTOGENET, V11, DOI 10.1186/s13039-018-0374-4eng
hcfmusp.relation.referenceZanardo EA, 2017, CLINICS, V72, P526, DOI 10.6061/clinics/2017(09)02eng
hcfmusp.relation.referenceZhang AJ, 2003, AM J HUM GENET, V72, P940, DOI 10.1086/374565eng
hcfmusp.relation.referenceZhang B, 2016, AM J MED GENET A, V170, P583, DOI 10.1002/ajmg.a.37445eng
hcfmusp.relation.referenceZhang XX, 2005, AM J HUM GENET, V76, P312, DOI 10.1086/427762eng
Appears in Collections:

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

Files in This Item:
File Description SizeFormat 
art_CHEHIMI_Breakpoint_delineation_in_5p_patients_leads_to_new_2020.PDFpublishedVersion (English)898.34 kBAdobe PDFThumbnail

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.