biostudies-literatureUnknown43(2)Dlugaszewska B<h4>Background</h4>Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.<h4>Methods</h4>We have identified and investigated three patients with limb abnormalities and breakpoints involving chromosome 2q31. Patient 1 with severe brachydactyly and syndactyly, mental retardation, hypoplasia of the cerebellum, scoliosis, and ectopic anus, carries a balanced t(2;10)(q31.1;q26.3) translocation. Patient 2, with translocation t(2;10)(q31.1;q23.33), has aplasia of the ulna, shortening of the radius, finger anomalies, and scoliosis. Patient 3 carries a pericentric inversion of chromosome 2, inv(2)(p15q31). Her phenotype is characterised by bilateral aplasia of the fibula and the radius, bilatJournal of medical genetics111-8https://www.ebi.ac.uk/biostudies/studies/S-EPMC2564623biostudies-literatureBreakpoints around the HOXD cluster result in various limb malformations.PMC2564623Kjaer KKalscheuer VMMenzel CKubart SCohen MNeitzel HTumer ZRopers HHSilahtaroglu AMundlos STommerup NDlugaszewska BFriedrich UfalseBreakpoints around the HOXD cluster result in various limb malformations.<h4>Background</h4>Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.<h4>Methods</h4>We have identified and investigated three patients with limb abnormalities and breakpoints involving chromosome 2q31. Patient 1 with severe brachydactyly and syndactyly, mental retardation, hypoplasia of the cerebellum, scoliosis, and ectopic anus, carries a balanced t(2;10)(q31.1;q26.3) translocation. Patient 2, with translocation t(2;10)(q31.1;q23.33), has aplasia of the ulna, shortening of the radius, finger anomalies, and scoliosis. Patient 3 carries a pericentric inversion of chromosome 2, inv(2)(p15q31). Her phenotype is characterised by bilateral aplasia of the fibula and the radius, bilat2006-01-01T00:00:00Z2006 Feb2025-04-19T03:41:39.539Z2019-03-27T00:18:49ZS-EPMC25646231598011510.1136/jmg.2005.033555