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 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
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 journal › Article
}
TY - JOUR
T1 - Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14
AU - Maserati, E.
AU - Ottolini, A.
AU - Veggiotti, P.
AU - Lanzi, G.
AU - Pasquali, F.
PY - 1988
Y1 - 1988
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0023700075&partnerID=8YFLogxK
M3 - Article
C2 - 3228996
AN - SCOPUS:0023700075
VL - 34
SP - 283
EP - 287
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 5
ER -