title: Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14.
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.
authors.affiliation: Biologia Generale e Genetica Medica, Università di Pavia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Maserati
authors.forename: A
authors.initials: A
authors.lastname: Ottolini
authors.forename: P
authors.initials: P
authors.lastname: Veggiotti
authors.forename: G
authors.initials: G
authors.lastname: Lanzi
authors.forename: F
authors.initials: F
authors.lastname: Pasquali
mesh_terms: D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000473:pathology; D002648:Child; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure*; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007159:Immunologic Tests; D007621:Karyotyping; D014178:Translocation, Genetic