{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T13:35:59Z","timestamp":1760708159141},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,2,22]],"date-time":"2010-02-22T00:00:00Z","timestamp":1266796800000},"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":[[2010,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Prenatal diagnosis of trisomy 7 is complex due to only a few reported cases. We report here on a stillborn boy with very large duplication of 7q11.22\u2009\u2192\u2009qter, encompassing almost the entire long arm of chromosome 7. Ultrasound, fetal and parental chromosome banding, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (CGH) analyses were performed. Sonographic findings included growth retardation, micrognathia, ventricular septal defect (VSD), aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, and cerebellar hypoplasia. Chromosome analysis after cordocentesis at 23 weeks of gestation revealed an abnormal male karyotype with 46 chromosomes and a derivative chromosome 7 with a very large duplication of the long arm, 46,XY,der(7)(qter\u2009\u2192\u2009q11.2::p22\u2009\u2192\u2009qter). The mother was found to carry an apparently balanced pericentric inversion, 46,XX,inv(7)(p22q11.2). Thus, the recombinant chromosome 7 [rec(7)dup(7q)inv(7)(p22.3q11.22)mat] of the fetus must have arisen through meiotic crossing\u2010over between the inverted chromosome and the normal chromosome 7 in the maternal germline. FISH and array CGH results confirmed the recombinant chromosome 7 in the fetus and indicated a loss of 1.9\u2009Mb at chromosome 7pter\u2009\u2192\u2009p22.3 (pter to 1,948,072\u2009bp), and a gain of 87.04\u2009Mb at chromosome 7q11.22\u2009\u2192\u2009qter (71,760,154\u2009bp to qter). The rare syndrome of almost complete trisomy 7q may be suspected in cases of growth retardation, cerebellar hypoplasia, micrognathia, aortic coarctation and VSD and hydronephrosis. Invasive prenatal diagnosis must be offered to the parents. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33238","type":"journal-article","created":{"date-parts":[[2010,2,22]],"date-time":"2010-02-22T22:30:53Z","timestamp":1266877853000},"page":"721-725","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22\u2009\u2192\u2009qter"],"prefix":"10.1002","volume":"152A","author":[{"given":"M.","family":"Tchirikov","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Merinsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Strohner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Bonin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Beyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Haaf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Bartsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,2,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370218"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.2.126"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.26.3249"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02615.x"},{"key":"e_1_2_4_6_1","volume-title":"Chromosome abnormalities and Genetic Counseling (Oxford Monographs on Medical Genetics)","author":"Gardner RJM","year":"2003"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970070512"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971219)73:3<290::AID-AJMG12>3.0.CO;2-E"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-7-24"},{"key":"e_1_2_4_10_1","first-page":"1","article-title":"Pericentric inversion with partial 7(q35\u2009\u2192\u2009qter) duplication and 7pter deletion: Diagnosis by cytogenetic and fish analysis in a 29\u2010year\u2010old male patient","volume":"13","author":"Lukusa T","year":"2002","journal-title":"Genet Couns"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2005-6-13-r107"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200304000-00010"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00304563"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054064"},{"key":"e_1_2_4_15_1","first-page":"327","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"2001"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970110)68:1<76::AID-AJMG15>3.0.CO;2-L"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1036295"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130848"}],"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.33238","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33238","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T20:24:04Z","timestamp":1697055844000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33238"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,22]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["10.1002\/ajmg.a.33238"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33238","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,22]]}}}