{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["43(2)"],"submitter":["Dlugaszewska B"],"pubmed_abstract":["Background
Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.Methods
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, bilat"],"journal":["Journal of medical genetics"],"pagination":["111-8"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2564623"],"repository":["biostudies-literature"],"pubmed_title":["Breakpoints around the HOXD cluster result in various limb malformations."],"pmcid":["PMC2564623"],"pubmed_authors":["Kjaer K","Kalscheuer VM","Menzel C","Kubart S","Cohen M","Neitzel H","Tumer Z","Ropers HH","Silahtaroglu A","Mundlos S","Tommerup N","Dlugaszewska B","Friedrich U"],"additional_accession":[]},"is_claimable":false,"name":"Breakpoints around the HOXD cluster result in various limb malformations.","description":"Background
Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.Methods
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, bilat","dates":{"release":"2006-01-01T00:00:00Z","publication":"2006 Feb","modification":"2025-04-19T03:41:39.539Z","creation":"2019-03-27T00:18:49Z"},"accession":"S-EPMC2564623","cross_references":{"pubmed":["15980115"],"doi":["10.1136/jmg.2005.033555"]}}