Welcome! Click here to login or here to register.
 |
|||||||||||||||||||
|
|||||||||||||||||||
 |
|||||||||||||||||||
"Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome." |
Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Białecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michałkiewicz J, Stachowski J, Gregorek H, Lysón-Wojciechowska G, et al. |
Published July 3, 1995 in Am J Med Genet. volume 57 .
Pubmed ID: 7545870
Abstract:
| We report on 11 patients from 8 independent families (3 pairs of sibs) with a complex clinical pattern including microcephaly, peculiar "bird-like" face, growth retardation, and, in some cases, mild-to-moderate mental deficiency. Most of the patients have recurring respiratory tract infections. One girl has developed B-cell lymphoma. A detailed anthropometric study of 15 physical parameters, including 3 cephalic traits, was performed. It was possible to study the chromosomes of PHA-stimulated lymphocytes in all of the patients. We found structural aberrations with multiple rearrangements, preferentially involving chromosomes 7 and 14 in a proportion of metaphases in all individuals. Profound humoral and cellular immune defects were observed. Serum AFP levels were within normal range. Radioresistant DNA synthesis was strongly increased in all 8 patients who were hitherto studied in this respect. Our patients fulfill the criteria of the Nijmegen breakage syndrome, which belongs to the growing category of ataxia telangiectasia-related genetic disorders. In light of the increased predisposition to malignancy in this syndrome, an accurate diagnosis is important for the patient. |
This publication refers to following REPAIRtoire entries:
| Diseases |
Last modification of this entry: Dec. 17, 2008
Add your own comment!
There is no comment yet.
|
|
|
|