{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:52Z","timestamp":1791121492324,"version":"4.1.0"},"reference-count":40,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; Deletions that encompass 2q31.1 have been proposed as a microdeletion syndrome with common clinical features, including intellectual disability\/developmental delay, microcephaly, cleft palate, growth delay, and hand\/foot anomalies. In addition, several genes within this region have been proposed as candidates for split hand-foot malformation 5 (SHFM5). &lt;i&gt;Methods:&lt;\/i&gt; To delineate the genotype-phenotype correlation between deletions of this region, we identified 14 individuals with deletions at 2q31.1 detected by microarray analysis for physical and developmental disabilities. &lt;i&gt;Results:&lt;\/i&gt; All subjects for whom detailed clinical records were available had neurological deficits of varying degree. Seven subjects with deletions encompassing the &lt;i&gt;HOXD&lt;\/i&gt; cluster had hand\/foot anomalies of varying severity, including syndactyly, brachydactyly, and ectrodactyly. Of 7 subjects with deletions proximal to the &lt;i&gt;HOXD&lt;\/i&gt; cluster, 5 of which encompassed &lt;i&gt;DLX1\/DLX2&lt;\/i&gt;, none had clinically significant hand\/foot anomalies. In contrast to previous reports, the individuals in our study did not display a characteristic gestalt of dysmorphic facial features. &lt;i&gt;Conclusion:&lt;\/i&gt; The absence of hand\/foot anomalies in any of the individuals with deletions of &lt;i&gt;DLX1\/DLX2&lt;\/i&gt; but not the &lt;i&gt;HOXD&lt;\/i&gt; cluster supports the hypothesis that haploinsufficiency of the &lt;i&gt;HOXD&lt;\/i&gt; cluster, rather than &lt;i&gt;DLX1\/DLX2&lt;\/i&gt;, accounts for the skeletal abnormalities in subjects with 2q31.1 microdeletions.<\/jats:p>","DOI":"10.1159\/000328405","type":"journal-article","created":{"date-parts":[[2011,5,18]],"date-time":"2011-05-18T06:33:54Z","timestamp":1305700434000},"page":"262-271","source":"Crossref","is-referenced-by-count":14,"title":["Refinement of the Region for Split Hand\/Foot Malformation 5 on 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