{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T03:25:05Z","timestamp":1773458705183,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,22]],"date-time":"2022-02-22T00:00:00Z","timestamp":1645488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005089","name":"Beijing Municipal Natural Science Foundation","doi-asserted-by":"publisher","award":["Z200022"],"award-info":[{"award-number":["Z200022"]}],"id":[{"id":"10.13039\/501100005089","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":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To explore the genetic and clinical features of a rare t(1;12)(q21;p13) in a patient with myelodysplastic syndrome (MDS). A 53\u2010year\u2010old male was diagnosed as high\u2010risk MDS, and died in a short period. A complete cytogenetic analysis of bone marrow by conventional G\u2010banding karyotyping was performed at the time of initial evaluation. On the basis of chromosome karyotype, interphase and metaphase fluorescence in\u2010situ hybridization (FISH) were carried out to further confirm the abnormal karyotypes. Reverse\u2010transcription polymerase chain reaction (RT\u2010PCR) was performed to determine <jats:italic>ETV6\/ARNT<\/jats:italic> fusion gene status. G\u2010banding revealed karyotype 47, XY, +8, der(12) t(1;12)(q21;p13). FISH with the centromere 8 probe verified the trisomy 8, and the <jats:italic>ETV 6<\/jats:italic> break\u2010apart probe suggested heterozygous loss of <jats:italic>ETV6<\/jats:italic> allele located in short arm of chromosome 12. Subsequently, the painting probe of whole chromosome 12 further confirmed the part break of short arm of chromosome 12, and the 1q21\/1p36 probe yielded three signals of 1q21 and two signals of 1p36. The results of FISH were in accordance with the karyotype completely. No <jats:italic>ETV6\/ARNT<\/jats:italic> fusion gene was detected by PCR. T(1;12)(q21;p13) is a rare abnormal karyotype, and the limited reports cannot supply definite clinical significance. Rapid deterioration of our case suggests this translocation of chromosome might have a poor effect on the survival of MDS.<\/jats:p>","DOI":"10.1002\/mgg3.1893","type":"journal-article","created":{"date-parts":[[2022,2,22]],"date-time":"2022-02-22T13:43:00Z","timestamp":1645537380000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic analysis and clinical significance of a rare t(1;12)(q21;p13) in a patient with high\u2010risk myelodysplastic syndrome"],"prefix":"10.1002","volume":"10","author":[{"given":"Fang","family":"Fang","sequence":"first","affiliation":[{"name":"Department of Hematology, Xuanwu Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ru","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Hematology, Xuanwu Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Congyan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Hematology, Xuanwu Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Hematology, Xuanwu Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9429-3024","authenticated-orcid":false,"given":"Wanling","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Hematology, Xuanwu Hospital Capital Medical University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,2,22]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2019000168"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa020150"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-61779-201-4_13"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-021-04712-8"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V80.7.1825.1825"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.11.4882"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2403327"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.25011"},{"key":"e_1_2_10_10_1","first-page":"7","article-title":"Detection of chromosome abnormalities in leukemia using fluorescence in situ hybridization","volume":"68","author":"Kearney L.","year":"2002","journal-title":"Methods in Molecular Medicine"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells10092371"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/hon.2900020402"},{"key":"e_1_2_10_13_1","doi-asserted-by":"crossref","DOI":"10.1159\/isbn.978-3-318-05979-3","volume-title":"ISCN 2016: An international system for human cytogentic nomenclature","author":"McGowan\u2010Jordan J","year":"2016"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells9010215"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2010.07.121"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.13529"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1207727"},{"issue":"4","key":"e_1_2_10_18_1","first-page":"434","article-title":"A case of atypical myelodysplastic syndrome with a novel reciprocal translocation t(1;12)(q21;p13)","volume":"85","author":"S\u00e1nchez J.","year":"2000","journal-title":"Haematologica"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.120162297"},{"issue":"12","key":"e_1_2_10_20_1","first-page":"1985","article-title":"TEL\/AML1 fusion resulting from a cryptic t(12;21) is the most common genetic lesion in pediatric ALL and defines a subgroup of patients with an excellent prognosis","volume":"9","author":"Shurtleff S. 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