Our first-year results confirm the fairly high risk for stroke in central and northern Italy and support European findings regarding risk factors for stroke.

Intractable epilepsy and peculiar EEG patterns characterize ring chromosome 20 syndrome [r(20)], while dysmorphic features, mental retardation and behavioural disturbances are widely variable. The clinical evolution of r(20) over time is not well defined as relatively few cases have been reported. Here we describe a patient with severe clinical features followed for a 25-year period. The patient was subjected to clinical, psychometric and EEG evaluation twice a year from the age of 21 years. Cytogenetic studies, using chromosome analysis and fluorescence in situ hybridization (FISH) and several immunological investigations were performed. Ring chromosome 20 was found in 50% of examined metaphases with the deletion of subtelomeric regions 20p and 20q. Our patient presented with marked dysmorphic features, severe mental retardation, tetraparesis, dysarthria and intractable epilepsy with onset during the first year of life. During follow up, EEG findings and clinical features progressively worsened: a progressive disorganization of background EEG activity occurred and mental and motor impairment evolved. The severity of clinical expression depended on the extent of chromosomal deletion and on the haploinsufficiency of other important related genetic loci due to ring instability. The progressive worsening of both clinical and EEG features over a long period, which has also been reported by other authors, further characterized this syndrome.

Objectives– This study formed part of a larger prospective population‐based survey on cerebrovascular diseases and aimed to provide reliable and comparable results on TIA incidence and on related risk factors, which could supply investigation objectives and support information for primary and secondary prevention. Material and methods– We undertook a prospective population‐based study in the province of Belluno, an area located in the North‐East of Italy where 211,389 people live, utilizing all the possible case‐collection sources available in the territory. Results– In the first year of the study (June 1, 1992 to May 31, 1993) 271 patients with a diagnosis of transient ischemic attack were recruited. Among these, we recorded 171 cases of new TIAs. The crude annual incidence rate for new TIAs was 0.80 per 1000, 0.73 per 1000 for men and 0.87 per 1000 for women. After adjustment to the European population, the overall incidence rate decreased to 0.58 per 1000 inhabitants per year. The mean age of new TIA patients was 73.91 years and females were significantly older than males (p<0.001). A CT scan disclosed an infarct in 21 new TIA patients. Conclusion– Our first‐year results on new TIAs incidence did not differ from the findings reported in previous population‐based studies performed throughout the world and support data as to risk factors for TIA.

The presence of an isochromosome Xq in Klinefelter syndrome (KS) is an apparently rare condition. In all cases reported so far, patients showed the classic phenotype. We here describe a case of isochromosome Xq [47,X,i(Xq),Y] in a non-mosaic KS patient. The patient exhibited a normal androgenized phenotype, normal testes and normal cognitive abilities. Semen analysis revealed a medium oligozoospermia (5 x 10(6) spermatozoa/ml). After the patient underwent intracytoplasmic sperm injection, he generated two cytogenetically healthy normal females. Fluorescence in situ hybridization analysis showed the presence of a dicentric Xq chromosome that did not show the presence of residual Xp arm up to the 57,820,478 bp position (Xp 1.1) of X chromosome sequence. Preferential inactivation of Xq isochromosome was demonstrated by bromodeoxyuridine replication analysis and transcriptional silencing by DNA methylation at the HUMARA locus. Furthermore, we demonstrated by quantitative RT-PCR an active XIST RNA expression in blood lymphocytes from Klinefelter patients, comparable to that observed in control females and over 30,000-fold greater than in control males. In conclusion, this qRT-PCR approach could be useful for screening of prepuberty males and for diagnosis or exclusion of cryptic Klinefelter mosaics.