Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.
European Journal of Human Genetics
Publication types: Case Reports ; Journal Article
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.
Abnormalities, Multiple, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Child, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 11, Craniofacial Abnormalities, Exostoses, Multiple Hereditary, Female, Gene Deletion, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Mental Retardation, N-Acetylglucosaminyltransferases, Nuclear Proteins, Parietal Bone, Syndrome, Trans-Activators
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