{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T22:17:02Z","timestamp":1792793822201,"version":"4.5.0"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,9,30]],"date-time":"2019-09-30T00:00:00Z","timestamp":1569801600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2016\/09452\u20100"],"award-info":[{"award-number":["2016\/09452\u20100"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004809","name":"Financiadora de Estudos e Projetos","doi-asserted-by":"publisher","award":["FINEP\/CT\u2010INFRA\u201001\/2011"],"award-info":[{"award-number":["FINEP\/CT\u2010INFRA\u201001\/2011"]}],"id":[{"id":"10.13039\/501100004809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p\u2010). The main clinical features include a high\u2010pitched cry, facial asymmetry, microcephaly, round face at birth, epicanthal folds, hypotonia, delayed growth and development.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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\u00a0Mb to the development of head circumference and cat\u2010like 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>With advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype\u2013phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat\u2010like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype\u2013phenotype correlation to perform a complete clinical and molecular diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.957","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T05:29:54Z","timestamp":1569907794000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Breakpoint delineation in 5p\u2010 patients leads to new insights about microcephaly and the typical high\u2010pitched cry"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0701-9260","authenticated-orcid":false,"given":"Samar N.","family":"Chehimi","sequence":"first","affiliation":[{"name":"Laborat\u00f3rio de Citogen\u00f4mica, Departamento de Patologia Faculdade de Medicina FMUSP, Universidade de S\u00e3o Paulo S\u00e3o Paulo SP Brazil"},{"name":"Unidade de Gen\u00e9tica, Departamento de Pediatria, Instituto da Crian\u00e7a, Hospital das Clinicas HCFMUSP Faculdade de Medicina, Universidade de S\u00e3o Paulo S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5624-8158","authenticated-orcid":false,"given":"\u00c9velin A.","family":"Zanardo","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Citogen\u00f4mica, Departamento de Patologia Faculdade de Medicina FMUSP, Universidade de S\u00e3o Paulo S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6192-5339","authenticated-orcid":false,"given":"Jos\u00e9 R. M.","family":"Ceroni","sequence":"additional","affiliation":[{"name":"Unidade de Gen\u00e9tica, Departamento de Pediatria, Instituto da Crian\u00e7a, Hospital das Clinicas HCFMUSP Faculdade de Medicina, Universidade de S\u00e3o Paulo S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7553-8337","authenticated-orcid":false,"given":"Amom M.","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Citogen\u00f4mica, Departamento de Patologia Faculdade de Medicina FMUSP, Universidade de S\u00e3o Paulo S\u00e3o Paulo SP Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8389-0509","authenticated-orcid":false,"given":"Fabr\u00edcia A. 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