{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T13:03:14Z","timestamp":1761310994647},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T00:00:00Z","timestamp":1416960000000},"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":[[2015,2]]},"abstract":"<jats:sec><jats:label \/><jats:p>Mosaicism for an autosomal structural rearrangement that does not involve ring or marker chromosomes is rare. The mechanisms responsible for genome instability have not always been explained. Several studies have shown that interstitial telomeric sequences (ITSs), involved in some mosaic constitutional anomalies, are potent sources of genomic instability. Here we describe two cases of mosaicism for uncommon constitutional autosomal rearrangements, involving ITSs, identified by karyotyping and characterized by FISH and SNP\u2010array analysis. The first patient, a boy with global developmental delay, had a rare type of pure distal 1q inverted duplication (1q32\u2010qter), attached to the end of the short arm of the same chromosome 1, in approximately 35% of his cells. The second patient, a phenotypically normal man, was diagnosed as having mosaic for a balanced non\u2010reciprocal translocation of the distal segment of 7q (7q33qter), onto the terminal region of the short arm of a whole chromosome 12, in approximately 80% of his cells. The remaining 20% of the cells showed an unbalanced state of the translocation, with only the der(7) chromosome. He was ascertained through his malformed fetus carrying a non\u2010mosaic partial monosomy 7q, identified at prenatal diagnosis. We show that pan\u2010telomeric and subtelomeric sequences were observed at the interstitial junction point of the inv dup(1q) and of the der(12)t(7;12), respectively. The present cases and review of the literature suggest that the presence of ITSs at internal sites of the chromosomes may explain mechanisms of the patients's mosaic structural rearrangements. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36857","type":"journal-article","created":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T17:53:30Z","timestamp":1417024410000},"page":"428-433","source":"Crossref","is-referenced-by-count":4,"title":["Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements"],"prefix":"10.1002","volume":"167","author":[{"given":"Jonathan","family":"L\u00e9vy","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Embryologie m\u00e9dicales AP\u2010HP H\u00f4pital Armand Trousseau Universit\u00e9 Paris VI Paris France"},{"name":"D\u00e9partement de g\u00e9n\u00e9tique AP\u2010HP H\u00f4pital Robert Debr\u00e9 Universit\u00e9 Paris VII Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aline","family":"Receveur","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Biologie de la Reproduction et de Cytog\u00e9n\u00e9tique CHU Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Jedraszak","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Biologie de la Reproduction et de Cytog\u00e9n\u00e9tique CHU Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Chantot\u2010Bastaraud","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Embryologie m\u00e9dicales AP\u2010HP H\u00f4pital Armand Trousseau Universit\u00e9 Paris VI Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Renaldo","sequence":"additional","affiliation":[{"name":"Service de Neurop\u00e9diatrie AP\u2010HP H\u00f4pital Armand Trousseau Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Gondry","sequence":"additional","affiliation":[{"name":"Service de Gyn\u00e9cologie\u2010Obst\u00e9trique CHU Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joris","family":"Andrieux","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Jeanne de Flandre CHRU Lille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henri","family":"Copin","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Biologie de la Reproduction et de Cytog\u00e9n\u00e9tique CHU Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Pierre","family":"Siffroi","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Embryologie m\u00e9dicales AP\u2010HP H\u00f4pital Armand Trousseau Universit\u00e9 Paris VI Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010France","family":"Portno\u00ef","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique et Embryologie m\u00e9dicales AP\u2010HP H\u00f4pital Armand Trousseau Universit\u00e9 Paris VI Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,11,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1319313110"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000053926"},{"key":"e_1_2_6_4_1","first-page":"167","article-title":"Cytogenetic and molecular analysis of a denovo tandem duplication of chromosome 21","author":"Blouin JL","year":"1991","journal-title":"Hum Genet 88"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2005.12.003"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.04.022"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"41","DOI":"10.3928\/0191-3913-19940101-09","article-title":"Congenital ocular defects associated with an abnormality of the human chromosome 1: Trisomy 1q 32\u2010qter","volume":"31","author":"Clark BJ","year":"1994","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.5.395"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.4.309"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000230002"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.2.108"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199601)16:1<1::AID-PD816>3.0.CO;2-W"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30146"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360339"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2010.09.022"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199501000-00003"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30588"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1245-0"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2012.00135"},{"key":"e_1_2_6_20_1","first-page":"914","article-title":"The presence of interstitial telomeric sequences in constitutional chromosome abnormalities","volume":"50","author":"Park VM","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31785"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32959"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-5-19"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.11.926"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990312)83:2<125::AID-AJMG8>3.0.CO;2-0"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30940"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1218498"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050440"}],"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.36857","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36857","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36857","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T08:36:18Z","timestamp":1696581378000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36857"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,26]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1002\/ajmg.a.36857"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36857","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,26]]}}}