| Literature DB >> 3228996 |
E Maserati1, A Ottolini, P Veggiotti, G Lanzi, F Pasquali.
Abstract
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.Entities:
Mesh：
Year: 1988 PMID： 3228996 DOI： 10.1111/j.1399-0004.1988.tb02879.x
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438