The clinical significance of an interstitial duplication of chromosome 15q11q13 is still not well documented. This abnormality has been associated with autistic spectrum disorders (ASD) and varying degrees of mental retardation. The clinical variability appears to be influenced by the parental origin of the duplication. We present here the clinical evaluation and psychological assessment of the largest reported family with 12 carriers on three generations. Patients exhibit mental retardation, motor and visuo‐motor skills impairments and adaptive functioning deficit without formal diagnosis of autism. There appeared to be evidence in the family of reduced penetrance in duplication of paternal origin. This familial 15q11q13 duplication was precisely investigated by cytogenetic and molecular techniques including fluorescence in situ hybridization (FISH), PCR analysis of microsatellite markers, array‐comparative genomic hybridization analysis (Array‐CGH) and semi‐quantitative methylation‐sensitive PCR. Results showed an inherited 15q11q13 duplication of maternal origin in 10 patients and of paternal origin in the remaining two. The size of the duplicated area was around 6 Mb with breakpoints in accordance with those previously reported. This report extends the clinical spectrum of the 15q11q13 duplication, and we recommend the investigation of 15q11q13 duplication not only in subjects with autistic spectrum disorder but also in patients with low normal intelligence and dyspraxia. © 2010 Wiley‐Liss, Inc.

Polymeric organogels based on acrylic acid and sodium styrene sulfonate (SSS) were synthesized and characterized by Fourier transform infrared spectroscopy, thermogravimetric analysis, dynamic mechanical thermal analysis (DMTA), and rheometrical analyses. The organogels exhibited medium alcohol absorbency because of counterion binding that formed in solvents with low dielectric constants. After acid treatment, the possibility of counterion binding was decreased, and the organogels achieved superabsorbency in alcohols, for example, about 80 and 50 g/g in methanol and ethanol, respectively. The superabsorbency was also measured in higher alcohols (i.e., n-propanol and isopropyl alcohol) and polyols (i.e., ethylene glycol, propylene glycol, 1,3-propanediol, and glycerol). The dielectric constant, viscosity, and structural features of the alcohols were investigated as important parameters determining the alcohol superabsorbency. DMTA of dried samples showed two glass-transition temperatures (T g 's), that is, the matrix T g and the complex T g , which increased with increasing SSS content. The tan d peak intensity increased after the acid treatment. With increasing SSS, the storage modulus of the dried gel increased; whereas that of the rheometrically measured hydrated gel decreased. Tan d decreased with increasing SSS because of enhanced counterion binding. These alcohol-specific superabsorbing organogels are suggested as excellent candidates for the manufacture of products with high alcohol contents, such as hand sanitizers and fuel gels.

Abstract