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.
| Original language | English |
|---|---|
| Pages (from-to) | 283-287 |
| Number of pages | 5 |
| Journal | Clinical Genetics |
| Volume | 34 |
| Issue number | 5 |
| Publication status | Published - 1988 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)