{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T14:54:51Z","timestamp":1761663291781},"reference-count":16,"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"}],"funder":[{"name":"Polish grants of Medical University of Bia\u0142ystok","award":["3 06 566","143-06537"],"award-info":[{"award-number":["3 06 566","143-06537"]}]}],"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>The identification of chromosomal breakpoints in association with human abnormal phenotypes can enable elucidation of gene function. We report on epiphyseal aseptic necrosis of the lesser head of the second metatarsal bone, known as Freiberg's infraction (FI), in two female carriers of the apparently balanced t(5;7)(p13.3;p22.2) ascertained by a 16\u2010year\u2010old girl with cri\u2010du\u2010chat syndrome and unusual skeletal features in association with an unbalanced translocation der(5) t(5;7)(p13.3;p22.2). Mapping of the chromosome breakpoints using fluorescent in situ hybridization (FISH) narrowed them to the coding sequence of <jats:italic>ADAMTS12<\/jats:italic> on chromosome 5p13.3 and <jats:italic>SDK1<\/jats:italic> on 7p22.2. In addition, several skeletal abnormalities classified as brachydactyly type A1B (BDA1B) were present in the proband and in both carriers of t(5;7)(p13.3;p22.2), suggesting a potential role of <jats:italic>ADAMTS12<\/jats:italic>  in the development of the BDA1B observed in this family. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36874","type":"journal-article","created":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T17:45:18Z","timestamp":1417023918000},"page":"445-449","source":"Crossref","is-referenced-by-count":3,"title":["Co\u2010segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B"],"prefix":"10.1002","volume":"167","author":[{"given":"Marta","family":"My\u015bliwiec","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Medical University of Bia\u0142ystok Bia\u0142ystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Panasiuk","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Medical University of Bia\u0142ystok Bia\u0142ystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"D\u0119biec\u2010Rychter","sequence":"additional","affiliation":[{"name":"Department of Human Genetics KU Leuven and University Hospitals Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr Sebastian","family":"Iwanowski","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Medical University of Bia\u0142ystok Bia\u0142ystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urszula","family":"\u0141ebkowska","sequence":"additional","affiliation":[{"name":"Department of Radiology Medical University Bia\u0142ystok Bia\u0142ystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Nowakowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Marcinkowska","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics Regional Children Hospital Bydgoszcz Bydgoszcz Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawel","family":"Stankiewicz","sequence":"additional","affiliation":[{"name":"Department of Molecular &amp; Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alina T.","family":"Midro","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Medical University of Bia\u0142ystok Bia\u0142ystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,11,26]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"413","article-title":"Inhibition of ADAMTS\u20107 and ADAMTS\u201012 degradation of cartilage oligomeric matrix protein by alpha\u20102\u2010macroglobulin","volume":"16","author":"Abramson SB","year":"2008","journal-title":"Osteoarthritis Cartilage"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.3.186"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-008-8633-x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.jfas.2005.02.010"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2010.49"},{"key":"e_1_2_7_7_1","first-page":"191","article-title":"Infraction of the second metatarsal bone","volume":"19","author":"Freiberg AH","year":"1914","journal-title":"Surg Gyneco Obstet"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.27491"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.11433"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers4041252"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M513433200"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0000327"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32475"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<325::AID-AJMG20>3.0.CO;2-S"},{"key":"e_1_2_7_15_1","first-page":"51","article-title":"The fragile\u2010X phenotype. 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