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- Title
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.
- Authors
Wuyts, Wim; Waeber, Gerard; Meinecke, Peter; Schüler, Herdit; Goecke, Timm O.; Hul, Wim Van; Bartsch, Oliver
- Abstract
The combination of multiple exostoses (EXT) and enlarged parietal foramina (foramina parietalia permagna, FPP) represent the main features of the proximal 11p deletion syndrome (P11pDS), a contiguous gene syndrome (MIM 601224) caused by an interstitial deletion on the short arm of chromosome 11. Here we present clinical aspects of two new P11pDS patients and the clinical follow-up of one patient reported in the original paper describing this syndrome. Recognised clinical signs include EXT, FPP, mental retardation, facial asymmetry, asymmetric calcification of coronary sutures, defective vision (severe myopia, nystagmus, strabismus), skeletal anomalies (small hands and feet, tapering fingers), heart defect, and anal stenosis. In addition fluorescence in situ hybridisation and molecular analysis were performed to gain further insight in potential candidate genes involved in P11pDS.European Journal of Human Genetics (2004) 12, 400-406. doi:10.1038/sj.ejhg.5201163 Published online 11 February 2004
- Subjects
EXOSTOSIS; GENETIC disorders; IN situ hybridization; MOLECULAR genetics; HUMAN chromosomes; HUMAN genetics
- Publication
European Journal of Human Genetics, 2004, Vol 12, Issue 5, p400
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201163