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

E. Maserati, A. Ottolini, P. Veggiotti, G. Lanzi, F. Pasquali

Research output: Contribution to journalArticle

22 Citations (Scopus)

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 languageEnglish
Pages (from-to)283-287
Number of pages5
JournalClinical Genetics
Volume34
Issue number5
Publication statusPublished - 1988

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Chromosomes, Human, Pair 14
Ataxia Telangiectasia
Chromosomes, Human, Pair 7
Siblings
Telangiectasis
Chromosomal Instability
Ataxia
Nervous System Diseases
Cytogenetics

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Maserati, E., Ottolini, A., Veggiotti, P., Lanzi, G., & Pasquali, F. (1988). Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14. Clinical Genetics, 34(5), 283-287.

Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14. / Maserati, E.; Ottolini, A.; Veggiotti, P.; Lanzi, G.; Pasquali, F.

In: Clinical Genetics, Vol. 34, No. 5, 1988, p. 283-287.

Research output: Contribution to journalArticle

Maserati, E, Ottolini, A, Veggiotti, P, Lanzi, G & Pasquali, F 1988, 'Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14', Clinical Genetics, vol. 34, no. 5, pp. 283-287.
Maserati E, Ottolini A, Veggiotti P, Lanzi G, Pasquali F. Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14. Clinical Genetics. 1988;34(5):283-287.
Maserati, E. ; Ottolini, A. ; Veggiotti, P. ; Lanzi, G. ; Pasquali, F. / Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14. In: Clinical Genetics. 1988 ; Vol. 34, No. 5. pp. 283-287.
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