{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T05:12:44Z","timestamp":1716354764983},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,4,2]],"date-time":"2003-04-02T00:00:00Z","timestamp":1049241600000},"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":[[2003,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Larsen syndrome is a congenital condition consisting of multiple large joint dislocations associated with a distinctive facial appearance and frequently other abnormalities. The syndrome is probably genetically heterogeneous, with both dominant and recessive inheritance reported. Previously two cases have been reported where a Larsen\u2010like syndrome was associated with unbalanced chromosomal translocations resulting in partial trisomy 1q and monosomy distal 6p. We now report a child with an unbalanced translocation resulting in a distal 6p deletion and partial trisomy 10q, who has Larsen\u2010like features and has also severe developmental delay. A G\u2010banded preparation revealed a karyotype 46,XX,der(6),t(6:10)(p25;q25.2) and the breakpoint at 6p25 was confirmed by FISH using YAC probes (between 6p25 at D6s477\/F13A1 and 6p24 at 6WI13606). Our case provides further evidence for a Larsen\u2010like locus at distal 6p and reduces the potential critical region. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20079","type":"journal-article","created":{"date-parts":[[2003,5,30]],"date-time":"2003-05-30T10:04:53Z","timestamp":1054289093000},"page":"288-292","source":"Crossref","is-referenced-by-count":4,"title":["Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: Clarification of the locus for this phenotype on distal 6p"],"prefix":"10.1002","volume":"119A","author":[{"given":"Paul A.","family":"James","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salim","family":"Aftimos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Oei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,4,2]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"465","article-title":"Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen\u2010like syndrome","volume":"29","author":"Bonaventure J","year":"1992","journal-title":"J Med Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.1.72"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050911"},{"key":"e_1_2_6_5_1","first-page":"722","volume-title":"Syndromes of the head and neck. 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