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.
Autori: | |
Data di pubblicazione: | 1988 |
Titolo: | ATAXIA WITHOUT TELANGIECTASIA IN TWO SISTERS WITH REARRANGEMENTS OF CHROMOSOMES 7 AND 14. |
Rivista: | CLINICAL GENETICS |
Codice identificativo ISI: | WOS:A1988Q874700001 |
Codice identificativo Scopus: | 2-s2.0-0023700075 |
Appare nelle tipologie: | Articolo su Rivista |