Correlation of del13q, del11q and trisomy 12 with laboratory and clinical features of chronic lymphocytic leukemia in Iranian patients

There is a strong association between chromosomal abnormalities and laboratory features and clinical course of the B-cell chronic lymphocytic leukemia [B-CLL]. The aim of this study was to investigate the frequency and correlation of cytogenetic aberrations with laboratory and clinical features of the disease. Clinical and laboratory features of 65 CLL patients were collected from their hospital profiles and their blood and/or bone marrow were examined by conventional cytogenetics and interphase FISH methods. Conventional cytogenetic methods identified 27.7% chromosomal abnormalities in 65 patients. I-FISH analysis for del13q, del11q and trisomy 12 revealed abnormality in 75.4% of patients. The results showed that IFISH improved the detection rate of chromosomal abnormalities and it enhanced detection. Statistical analysis was performed on sex, age, family history, Rai stage and CD markers on trisomy 12, del 11q and del 13q subgroups. There was a high frequency of Ray stages I and II within del13q subgroup, Rai stages III and IV within del11q subgroup and Rai stage II within trisomy 12 subgroup. Mean of CD38 in patients with del 11q was significantly higher than mean of patients with trisomy 12 and del 13q. High level of CD38 and presence of del11q indicated a poor prognosis and low level of CD38 and presence of del13q was indicative of good prognosis in Iranian B-CLL patients. Trisomy 12 had an intermediate prognostic value

Homozygosity for pericentric inversions of chromosome 9 in a patient's parents with stillbirth-report of a new case and review of literature

Pericentric inversions of chromosome 9 are among the most frequent chromosomal rearrangement in human. A few cytogeneticists consider inversions of chromosome 9 as a normal variant. However, many reports in the recent literature link pericentric inversions of chromosome 9 with infertility, recurrent abortions, and a number of other abnormal conditions. We report a case of homozygosity pericentric inversions of chromosome 9 in a woman with 28- wk stillbirth. In this case, her both parents were heterozygotes for the inversions of chromosome 9