Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients with trisomy 8 syndrome owing to an isodicentric 8p;8p chromosome are described. Case 1 had a 46,XX/46,XX,-8,+idic(8)(p23) karyotype while case 2, a male, had the same abnormal karyotype without evidence of mosaicism. In situ hybridisation, performed in case 1, showed that the isochromosome was asymmetrical. Agenesis of the corpus callosum (ACC), which is a feature of trisomy 8 syndrome, was found in both patients. Although ACC is associated with aneuploidies for different chromosomes, a review of published reports indicates that, when associated with chromosome 8, this defect is the result of duplication of a gene located within 8p21-pter. Molecular analysis in one of our patients led us to exclude the distal 23 Mb of 8p from this ACC region.
 ...
PMID:Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development. 801 74

Congenital radial head dislocation (CRHD) can occur as an isolated abnormality, as part of an upper-limb anomaly or as a feature of at least fourteen syndromes. The dislocation may be unilateral or bilateral, and rarely can be bilaterally asymmetrical. CRHD is often asymptomatic, and may go undiagnosed and remain undetected until after a radiography has been obtained for an incidental injury. It is therefore important to be able to differentiate congenital from traumatic dislocation of the radial head. We report a mentally retarded female, known to have trisomy 8, who presented with stiffness of her elbow joints and no history of preceding trauma. Radiographs confirmed bilateral asymmetrical radial head dislocation. This combination of anterior and posterior CRHD co-existing in the same patient has not been described previously with trisomy 8 syndrome.
 ...
PMID:Bilateral, asymmetrical congenital dislocation of the radial heads in trisomy 8 syndrome. 922 Jan 5