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Clin Genet. 1988 Nov;34(5):283-7.

Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14.

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Biologia Generale e Genetica Medica, Università di Pavia, Italy.


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.

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