{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:45:33Z","timestamp":1791049533101,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,12]],"date-time":"2003-06-12T00:00:00Z","timestamp":1055376000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Seckel syndrome (SS) is an autosomal recessive entity characterized by proportionate pre\u2010 and post\u2010natal growth retardation, microcephaly, typical facial appearance with beak\u2010like protrusion, and severe mental retardation. A heterogeneous basis for SS was proposed since around 25% of SS patients have hematological anomalies, suggesting a subgroup of SS with chromosome instability and hematological disorders. Chromosome instability induced by mitomycin C (MMC) has been observed in previous reports. The purpose of this study is to report cytogenetic features in five patients with SS. The patients had low birth weight (mean 1,870 g), short stature (SD\u2009=\u20096.36), microcephaly (OFC, SD\u2009=\u20098.1), typical facial appearance, and multiple articular dislocations. None of them had anemia at the time of examination. In all cases their parents were healthy and non\u2010consanguineous. Lymphocytes of SS patients and a control group (n\u2009=\u20099) matched by age and sex were cultured with and without MMC, and harvested at 72 and 96 hr. Chromosomal aberrations (chromatid and chromosomal gaps and breaks, deletions, fragments, and exchanges) were scored in 100 metaphases per culture. A statistical increase of chromosomal aberrations was observed in 96 hr MMC cultures in all patients (40.2% vs. 2.8%). Sister chromatid exchanges were also performed with no differences between groups. Clinical and cytogenetic findings support the idea that SS may correspond to a chromosome instability syndrome. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20341","type":"journal-article","created":{"date-parts":[[2003,10,30]],"date-time":"2003-10-30T11:22:03Z","timestamp":1067512923000},"page":"148-152","source":"Crossref","is-referenced-by-count":22,"title":["Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients"],"prefix":"10.1002","volume":"123A","author":[{"given":"Lucina","family":"Bobabilla\u2010Morales","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Corona\u2010Rivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Rom\u00e1n","family":"Corona\u2010Rivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Buenrostro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa A.","family":"Garc\u00eda\u2010Cobi\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Corona\u2010Rivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Mar\u00eda","family":"Cant\u00fa\u2010Garza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Garc\u00eda\u2010Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,10,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<388::AID-AJMG9>3.0.CO;2-1"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200701"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270318"},{"key":"e_1_2_7_5_1","first-page":"555","article-title":"Seckel's dwarfism analysis of chromosome breakage and sister chromatid exchanges","volume":"133","author":"Cervenka J","year":"1979","journal-title":"Am J Dis Child"},{"issue":"1","key":"e_1_2_7_6_1","first-page":"99","article-title":"Aplastic anemia associated with \u201cbird\u2010headed\u201d dwarfism (Seckel syndrome)","volume":"35","author":"Esperou\u2010Bordeau H","year":"1993","journal-title":"Nouv Rev Fr Hematol"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/303023"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.2.148"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-198406020-00016"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120103"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/251156a0"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.2.196"},{"key":"e_1_2_7_13_1","volume-title":"\u201cBird Headed Dwarfs.\u201d","author":"Seckel HPG","year":"1960"},{"issue":"4","key":"e_1_2_7_14_1","first-page":"213","article-title":"Seckel syndrome: Report of three sibships with the type I primordial dwarfism possible linkage with HLA locus","volume":"35","author":"Stoppoloni G","year":"1992","journal-title":"Ann G\u00e9n\u00e9t"},{"issue":"1","key":"e_1_2_7_15_1","first-page":"37","article-title":"Seckel syndrome in a family with three affected children and hematological manifestation associated with chromosome instability","volume":"6","author":"Syrrou M","year":"1995","journal-title":"Gen Coun"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4613-0139-4_24"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.3.192"},{"key":"e_1_2_7_18_1","first-page":"334","article-title":"Familial dwarfism associated with microcephaly, mental retardation and anaemia","volume":"48","author":"Upjohn C","year":"1955","journal-title":"Proc R Soc Med"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.4.301"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20341","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20341","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T12:28:29Z","timestamp":1696681709000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20341"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,28]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,12]]}},"alternative-id":["10.1002\/ajmg.a.20341"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20341","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,28]]}}}