Shwachman syndrome and chromosome breakage
✍ Scribed by M. Fraccaro; Susi Scappaticci; M. Aricò
- Book ID
- 104701856
- Publisher
- Springer
- Year
- 1988
- Tongue
- English
- Weight
- 65 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0340-6717
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📜 SIMILAR VOLUMES
In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals
Immune deficiency and chromosome fragility are hallmarks of two human diseases, ataxia telangiectasia and Nijmegen breakage syndrome. The genes mutated in these diseases, ATM and NBSl, have been cloned and there has been considerable recent progress on deciphering the function of the protein product