{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T16:56:58Z","timestamp":1789750618648,"version":"4.0.1"},"reference-count":25,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,6]]},"abstract":"<jats:p>Split hand\/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, including a translocation breakpoint at 7q21.3 near the DSS1 gene. In addition to ectrodactyly of all four limbs, the patient has congenital deafness, submucous cleft palate, microcephaly, and mental retardation. This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.<\/jats:p>","DOI":"10.1136\/jmg.33.6.507","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"507-510","source":"Crossref","is-referenced-by-count":36,"title":["Split hand\/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3."],"prefix":"10.1136","volume":"33","author":[{"given":"J","family":"Ignatius","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Knuutila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S W","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Trask","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Kere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,6,1]]},"reference":[{"key":"ref_1","first-page":"65","volume-title":"Split hand\/split foot. 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Characterization of the split hand\/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Molec Genet (in press)."},{"key":"ref_25","article-title":"Fluorescence in situ hybridization: a review of the role of FISH in genome analysis, supporting background information, and detailed protocols","volume-title":"analysis: a laboratory nmanual","author":"Trask, B.J.","year":"1996","unstructured":"Trask BJ. Fluorescence in situ hybridization: a review of the role of FISH in genome analysis, supporting background information, and detailed protocols. In: Birren B, Green E, Hieter P, Myers R, eds. Genonme analysis: a laboratory nmanual. 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