{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:04:51Z","timestamp":1792047891991,"version":"4.4.0"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3787,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,1,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Among 6800 consecutive blood samples studied for clinical cytogenetic diagnosis, we identified 30 families in which one parent of the proband had a balanced reciprocal autosomal translocation (excluding Robertsonian rearrangements). Twentyeight of the 30 families had a malformed and\/or mentally retarded proband: 19 with an unbalanced derived chromosome, 3 with abnormalities involving chromosomes other than those in the translocation, 5 with a \u201cbalanced\u201d reciprocal translocation, and 1 with a normal karyotype. We hypothesize that the latter 6 affected probands with \u201cbalanced\u201d karyotypes could be abnormal due to submicroscopic deletions and duplications as was originally suggested by Jacobs [1984]. Particularly in these 6 families, 83% of translocation breakpoints were associated with fragile sites, more than expected by chance (<jats:italic>P<\/jats:italic> &lt; 0.025). This supports the report of an association between fragile sites and constitutional chromosome breakpoints by Hecht and Hecht [1984]. To explain these findings, we propose that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions. Consequently, newborn infants inheriting a seemingly \u201cbalanced\u201d karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and\/or developmentally delayed because of submicroscopic chromosomal imbalances. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320550114","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:53:19Z","timestamp":1118512399000},"page":"47-52","source":"Crossref","is-referenced-by-count":17,"title":["\u201cBalanced\u201d karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents"],"prefix":"10.1002","volume":"55","author":[{"given":"Sharon L.","family":"Wenger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark W.","family":"Steele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie Y.","family":"Boone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharen G.","family":"Lenkey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James H.","family":"Cummins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao\u2010Qing","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278725"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273267"},{"key":"e_1_2_1_4_1","first-page":"629","article-title":"De novo microdeletion on an inherited Robertsonian translocation chromosome. A cause for dysmorphism in the apparently balanced translocation carrier","volume":"53","author":"Bonthron DT","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","first-page":"133","article-title":"Unmasking of heterozygosity by inheriting balanced translocations. Implications for prenatal diagnosis and gene mapping","volume":"26","author":"B\u00fchler EM","year":"1983","journal-title":"Ann Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819309087618"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130843"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278808"},{"key":"e_1_2_1_9_1","first-page":"185","article-title":"On the excess of mental retardation and\/or congenital malformations in apparently balanced reciprocal translocations. A critical review of the Leuven data 1966\u20131991","volume":"2","author":"Fryns JP","year":"1991","journal-title":"Genet Counseling"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb04364.x"},{"key":"e_1_2_1_11_1","first-page":"63","volume-title":"Population Cytogenetics","author":"Hook EB","year":"1977"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/249164a0"},{"key":"e_1_2_1_13_1","first-page":"81","volume-title":"Population Cytogenetics","author":"Jacobs PA","year":"1977"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274751"},{"key":"e_1_2_1_15_1","first-page":"609","volume-title":"Biometry: The Principles and Practice of Statistics in Biological Research","author":"Sokal RR","year":"1969"},{"key":"e_1_2_1_16_1","first-page":"A85","article-title":"Chromosome site 4q21 and Huntington like disease (HLD)","volume":"41","author":"Steele MW","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279106"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132804"},{"key":"e_1_2_1_19_1","first-page":"825","article-title":"Balanced chromosome translocations and abnormal phenotypes","volume":"69","author":"Van Heerden MI","year":"1986","journal-title":"SAMJ"},{"key":"e_1_2_1_20_1","first-page":"995","article-title":"De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints","volume":"49","author":"Warburton D","year":"1991","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320550114","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320550114","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T19:07:45Z","timestamp":1698260865000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320550114"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,1,2]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1995,1,2]]}},"alternative-id":["10.1002\/ajmg.1320550114"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320550114","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,1,2]]}}}