{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T14:37:25Z","timestamp":1790001445214,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,6,9]],"date-time":"2003-06-09T00:00:00Z","timestamp":1055116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"CONACYT","award":["29140-M"],"award-info":[{"award-number":["29140-M"]}]},{"name":"CONACYT","award":["3388-M"],"award-info":[{"award-number":["3388-M"]}]},{"name":"CONACYT (to C.E.)","award":["91769"],"award-info":[{"award-number":["91769"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Pancytopenia, hyperpigmentation, small stature, congenital abnormalities, and predisposition to neoplasia characterize Fanconi anemia (FA). The clinical phenotype is extremely variable, therefore the diagnosis is frequently delayed until the pancytopenia appears, making diagnosis difficult on the basis of clinical manifestations alone. Hypersensitivity of FA cells to the clastogenic effect of diepoxybutane (DEB) provides a unique marker for the diagnosis before the beginning of hematological manifestations. Our aim in this study was to detect FA in children with atypical manifestations to define which conditions should be routinely included in the DEB test screening. We performed the chromosomal breakage test in 34 patients with probable FA and 83 patients with clinical conditions that could suggest FA, but are not usually screened by the DEB test: 20 patients with aplastic anemia, 20 patients with VACTERL association, 20 with radial ray abnormalities, 7 with tracheo\u2010esophageal fistulae, 12 with anal atresia, and 4 with myelodysplastic syndrome. We found 18 DEB\u2010positive patients: 12 were in the group of probable FA and 6 in the other groups. Among the last ones: three were included because of aplastic anemia, without any other sign of FA, however when re\u2010examined, other anomalies were detected. The third patient had anal atresia, renal hypoplasia, pre\u2010axial polydactyly, and normal blood cell counts and was diagnosed as having VACTERL association. The other two patients lacking physical or hematological signs were identified among the group of radial ray abnormalities. Thus, our results highlight the need to increase the number of abnormalities indicating need for a DEB test. Delay in the diagnosis of FA may have serious consequences for the patients and their family members. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20327","type":"journal-article","created":{"date-parts":[[2003,12,12]],"date-time":"2003-12-12T04:00:28Z","timestamp":1071201628000},"page":"35-39","source":"Crossref","is-referenced-by-count":44,"title":["DEB test for Fanconi anemia detection in patients with atypical phenotypes"],"prefix":"10.1002","volume":"124A","author":[{"given":"Carmen","family":"Esmer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertha","family":"Molina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Frias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Carnevale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,6,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02477.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-199205000-00014"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1993.tb08638.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199610)53:2<99::AID-AJH7>3.0.CO;2-Z"},{"key":"e_1_2_5_6_1","first-page":"731","article-title":"Fanconi anemia diagnosis and the diepoxibutane (DEB) test","volume":"21","author":"Auerbach AD","year":"1993","journal-title":"Exp Hematol"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1182\/blood.V73.2.391.391","article-title":"International Fanconi Anemia Registry: Relation of clinical symptoms to diepoxibutane sensitivity","volume":"73","author":"Auerbach AD","year":"1989","journal-title":"Blood"},{"key":"e_1_2_5_8_1","doi-asserted-by":"crossref","first-page":"4813","DOI":"10.1182\/blood.V91.12.4813","article-title":"Increased frequency of Fanconi anemia group C genetic variants in children with sporadic acute myeloid leukemia","volume":"91","author":"Awan A","year":"1998","journal-title":"Blood"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V90.5.1725"},{"key":"e_1_2_5_10_1","first-page":"219","article-title":"Utilidad de la prueba de exposici\u00f3n de linfocitos a mitomicina C en el diagn\u00f3stico de anemia de Fanconi","volume":"36","author":"Frias S","year":"1986","journal-title":"Rev Invest Clin"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970110)68:1<58::AID-AJMG11>3.0.CO;2-N"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(89)80011-3"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520306"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.78.4.375"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430624"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.0.CO;2-U"},{"key":"e_1_2_5_17_1","first-page":"1829","article-title":"A high susceptibility of Fanconi's anemia to chromosome breakage by DNA crosslinking agents","volume":"33","author":"Sasaki MS","year":"1973","journal-title":"Cancer Res"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00389636"}],"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.20327","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20327","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T11:24:52Z","timestamp":1700133892000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20327"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,9]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["10.1002\/ajmg.a.20327"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20327","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,9]]}}}