, Volume 24, Issue 2, pp 115–128 | Cite as

Cytogenetic study of patients with ataxia-telangiectasia

  • N. P. Bochkov
  • Y. M. Lopukhin
  • N. P. Kuleshov
  • L. V. Kovalchuk
Original Investigations


The peripheral blood chromosomes of patients with ataxia-telangiectasia were studied. The general manifestations of this autosomal recessive mutation in the examined patients were: a progressive cerebellar ataxia, oculocutaneous telanggiectasia, recurrent sinopulmonary infections, a deficit or lack of IgA, a diminished number of thymus-derived lymphocytes, and low lymphocyte blasttransformation. In 3 patients lymphoreticular neoplasia was diagnosed.

2004 cells were analyzed (49 cultures from 23 patients). 151 of these cells were found to have chromosomal aberration (7.5%). The aberrant cells contained 168 chromosomal breaks (0.08 per cell). A high frequency of endoreduplication and polyploidy was revealed in patients with ataxia-telangiectasia. Chromosomally marked clones were found in 8 patients. The types of clones were following; 46,Dq-; 46,t(Dq-Cq+); 46,t(Dq-Dq+) and 47,+C. The initial level of clones was 5–10% in different patients. The study after 12 months showed the increasing proportion of marked clones to 8–16%.

Either the marked clones represent a step toward lymphoid neoplasia, to which the patients with ataxia-telangiectasia are predisposed, or proliferation of abnormal clones and malignization in such patients appear as two independent processes agianst a background of immunoglobulin deficit.


Cerebellar Ataxia Chromosomal Break Sich Eine Abnormal Clone Autosomal Recessive Mutation 
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Es wurden Chromosomen aus peripherem Blut von Patienten mit Ataxia-telangiectasia untersucht. Dieses autosomal-recessive Erbleiden zeigt bei den Patienten die folgenden Manifestationen: progressive cerebelläre Ataxie; okulocutane Teleangiektasie; rekurrierende sinopulmonale Infektionen; ein IgA-Mangel; eine Verminderung der Zahl der T-Lymphocyten; eine geringe Blasten-Transformation der Lymphocyten. 3 Patienten zeigten eine lymphoreticuläre Neoplasie.

Es wurden 2004 Zellen analysiert (49 Kulturen von 23 Patienten), von denen 151 Zellen (7,5%) eine Chromosomenaberration zeigten. Diese aberranten Zellen enthielten 168 Chromosomenbrüche (0,08/Zelle). Außerdem zeigte sich eine hohe Häufigkeit von Endoreduplikationen und Polyploidie. Bei 8 Patienten fanden sich Klone und Marker-Chromosomen: 46,Dq-; 46,t(Dq-Cq+); 46,t(Dq-Dq+) und 47,+C. Die Häufigkeit dieser Klone zu Beginn der Untersuchung war 5–10% bei verschiedenen Patienten. Nach 12 Monaten war die Häufigkeit auf 8–16% angestiegen.

Entweder repräsentieren die markierten Klone einen Schritt in Richtung auf die lymphoide Neoplasie, für welche die Patienten disponiert sind, oder Proliferation abnormer Klone und Malignisierung sind zwei verschiedene Prozesse auf dem Hintergrund eines Immunglobulin-Mangels.


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Copyright information

© Springer-Verlag 1974

Authors and Affiliations

  • N. P. Bochkov
    • 1
  • Y. M. Lopukhin
    • 2
  • N. P. Kuleshov
    • 1
  • L. V. Kovalchuk
    • 2
  1. 1.Institute of Medical Genetics AMS USSRMoscowUSSR
  2. 2.Pirogov's Second Medical InstituteMoscowUSSR

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