Ontology highlight
ABSTRACT:
SUBMITTER: Dlugaszewska B
PROVIDER: S-EPMC2564623 | biostudies-literature | 2006 Feb
REPOSITORIES: biostudies-literature
Dlugaszewska B B Silahtaroglu A A Menzel C C Kübart S S Cohen M M Mundlos S S Tümer Z Z Kjaer K K Friedrich U U Ropers H-H HH Tommerup N N Neitzel H H Kalscheuer V M VM
Journal of medical genetics 20050624 2
<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. ...[more]