{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T18:07:58Z","timestamp":1760897278153,"version":"build-2065373602"},"reference-count":20,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,6,1]]},"abstract":"<jats:p>We report on a male patient and members of his family with additional material in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsible for neonatal deaths and several abortions in this family. Two members of this family suffer from ectrodactyly or split hand\/foot malformations (SHFM) of the feet which possibly correlates with the derivative chromosome 7 containing a breakpoint in the <jats:italic>SHFM1<\/jats:italic> critical region involving several homeobox genes.<\/jats:p>","DOI":"10.1136\/jmg.37.6.442","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"442-445","source":"Crossref","is-referenced-by-count":7,"title":["Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot"],"prefix":"10.1136","volume":"37","author":[{"given":"J\u00f6rg","family":"Weimer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Kiechle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ute","family":"Wiedemann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"T\u00f6nnies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidemarie","family":"Neitzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eberhard","family":"Ruhenstroth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Ovens-Raeder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norbert","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,6,1]]},"reference":[{"key":"2025101721443751000_37.6.442.1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1345"},{"key":"2025101721443751000_37.6.442.2","first-page":"12","article-title":"Fine mapping of the autosomal dominant split hand\/foot locus on chromosome 7, band q21.3-q22.1.","volume":"55","author":"Scherer","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025101721443751000_37.6.442.3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.5.571"},{"key":"2025101721443751000_37.6.442.4","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1111\/j.1399-0004.1995.tb03930.x","article-title":"Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.","volume":"47","author":"Marinoni","year":"1995","journal-title":"Clin Genet"},{"key":"2025101721443751000_37.6.442.5","unstructured":"Scherer S. 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