{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:27:17Z","timestamp":1697671637894},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,3,7]],"date-time":"2002-03-07T00:00:00Z","timestamp":1015459200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe here a 3\u2010year\u2010old girl demonstrating combined cellular immunodeficiency of B\u2010 and T\u2010cells, pancytopenia, multiple anomalies, and severe mental retardation. Cytogenetic analysis and fluorescent in situ hybridization (FISH) indicated an unbalanced translocation of chromosomes 8q and 11q, resulting in monosomy 11q23.3\u2010qter and trisomy 8q24.3\u2010qter. The association of cellular immunodeficiency and partial deletion 11q and\/or partial trisomy 8q has not been described previously; however, the 11q deletion has been reported with humoral immunodeficiency or pancytopenia. Some one\u2010third to one\u2010half of patients with partial monosomy 11q were reported to have pancytopenia, which has been related to the absence of the 11q23\u2010q24 region. Our case narrows down the critical interval for thrombo\u2010 or pancytopenia to 11q23.3\u2010q24 and excludes both the ATM (which resides on 11q23.1) and the MLL genes as possible candidate genes. We are proposing that haploinsufficiency of the <jats:italic>NFRKB<\/jats:italic> gene on 11q24\u2010q25 and\/or the <jats:italic>ETS\u20101<\/jats:italic> proto\u2010oncogene on 11q24 may have caused or contributed to the immunodeficiency (decreased levels of B\u2010 and T\u2010lymphocytes) in our patient. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10284","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:09:26Z","timestamp":1030316966000},"page":"322-326","source":"Crossref","is-referenced-by-count":9,"title":["Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3\u2009\u2192\u2009qter, and trisomy 8q24.3\u2009\u2192\u2009qter"],"prefix":"10.1002","volume":"108","author":[{"given":"Katrin","family":"\u00d5unap","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Bartsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oivi","family":"Uibo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piret","family":"Laidre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,3,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80216-2"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200378"},{"key":"e_1_2_6_4_1","unstructured":"CEPH\u2010G\u00e9n\u00e9thon. Centre d'Etudes des Polymorphismes Humaine.http:\/\/www.cephb.fr\/bio\/ceph\u2010genethon\u2010map.html\/"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199812)18:12<1289::AID-PD432>3.0.CO;2-Y"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00605.x"},{"key":"e_1_2_6_7_1","unstructured":"Genetics Location Database. The Genetics Epidemiology Group. University of Southampton School of Medicine.http:\/\/cedar.genetics.soton.ac.uk\/"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04302.x"},{"key":"e_1_2_6_9_1","first-page":"430","volume-title":"The principles of clinical cytogenetics","author":"Howard\u2010Peebles PN","year":"1999"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152624"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1027322314256"},{"key":"e_1_2_6_12_1","first-page":"305","article-title":"11q\u2010syndrome: three cases and a review of the literature","volume":"10","author":"Leegte B","year":"1999","journal-title":"Genet Couns"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590215"},{"key":"e_1_2_6_14_1","first-page":"1694","article-title":"Expression of c\u2010myc oncoprotein in cronic T cell leukemias","volume":"10","author":"Maljaie SH","year":"1995","journal-title":"Leukemia"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<378::AID-AJMG2>3.0.CO;2-H"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/377639a0"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1996.tb02715.x"},{"key":"e_1_2_6_18_1","first-page":"676","article-title":"Clinical and molecular characterization of patients with distal 11q deletions","volume":"56","author":"Penny LA","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00293767"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1354"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-693X(99)80052-9"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03234.x"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350111"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10284","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10284","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T18:51:05Z","timestamp":1697482265000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3,7]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,4]]}},"alternative-id":["10.1002\/ajmg.10284"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10284","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,3,7]]}}}