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Lindstrand A.,Karolinska Institutet | Malmgren H.,Karolinska Institutet | Verri A.,Neurological Institute C Mondino Foundation | Benetti E.,University of Padua | And 6 more authors.
American Journal of Medical Genetics, Part A

Chromosome 10p terminal deletions have been associated with DiGeorge phenotype, and within the same genomic region haploinsufficiency of GATA3 causes the HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia). We have performed detailed molecular analysis of four patients with partial overlapping 10p deletions by using FISH-mapping, array-CGH, and custom-designed high-resolution oligonucleotide array. All four patients had mental retardation and speech impairment and three of them showed variable signs of HDR syndrome. In addition, two patients had autistic behaviors and had similar dysmorphic features giving them a striking physical resemblance. A review of the literature identified 10 previously published cases with similar 10p deletions and reliable molecular or molecular cytogenetic mapping data. The combined information of present and previous cases suggests that partial deletions of 10p14-p15 represent a syndrome with a distinct and more severe phenotype than previously assumed. The main characteristics include severe mental retardation, language impairment, autistic behavior, and characteristic clinical features. A critical region involved in mental retardation and speech impairment is defined within 1.6Mb in 10p15.3. In addition, deletion of 4.3Mb within 10p14 is associated with autism and characteristic clinical findings. © 2010 Wiley-Liss, Inc. Source

Montomoli C.,University of Pavia | Citterio A.,Neurological Institute C Mondino Foundation | Piccolo G.,Neurological Institute C Mondino Foundation | Cioccale R.,University of Pavia | And 4 more authors.

Background and Aims: Previous studies have reported a prevalence estimate of myasthenia gravis (MG) from 7.7 to 11.1 per 100,000 inhabitants in Europe. Moreover, the study of the geographical distribution of MG should be useful to generate specific hypotheses. The aims are to estimate MG prevalence and to investigate its geographical variation in a delimited area in Northern Italy. Methods: The primary source of data was the MG database of the Neurological Institute of Pavia and all other sources of case collection in and outside the province. We adopted a Bayesian approach to analyze MG geographical variation within the finest geographical grid. Results: We identified 119 live MG prevalent cases resident in the province of Pavia on December 31, 2008. The overall crude prevalence was 24 per 100,000 inhabitants. The Bayesian analysis identified a small cluster of higher MG prevalence in the northern area of the province. Conclusions: The estimated MG prevalence sets the province of Pavia among the high-risk areas. The identification of high/low MG risk areas deserves further investigation of genetic and environmental factors possibly related to a major risk of the disease in that area. Copyright © 2012 S. Karger AG, Basel. Source

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