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Medline ® Abstract for Reference 89

of 'Ataxia-telangiectasia'

Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14.
Maserati E, Ottolini A, Veggiotti P, Lanzi G, Pasquali F
Clin Genet. 1988;34(5):283.
Two sisters, 11 and 9 years old respectively, had the clinical features of a progressive neurological disorder similar to the ataxia-telangiectasia (AT) syndrome. The two patients have ataxia and chromosome instability with rearrangements of chromosomes 7 and 14 but no telangiectasia, nor the range of immunological anomalies typical of AT. Comparison with similar cases from the literature leads to the conclusion that either there is a specific disorder characterized by ataxia-without-telangiectasia and with the same cytogenetic pattern of AT, or AT shows a wider variability of phenotypic expression than thought before.
Biologia Generale e Genetica Medica, Universitàdi Pavia, Italy.