Constitucional Chromosome aberrations in Hematologic Disorders: Evaluation of 4884 patients from a sole institution

CERRETINI, ROXANA; ACEVEDO, SUSANA; CHENA, CHRISTIAN; BELLI, CAROLINA; LARRIPA, IRENE; SLAVUTSKY, IRMA

Focus in Down Syndrome Research

Nova Biomedical Books, Nova Science Publishers, Inc

Lugar: New York; Año: 2004; p. 85 - 105

We have reviewed 4884 patients with different hematologic disorders cytogenetically studied in our laboratory during the last 27 years in order to analyze the frequency of constitutional chromosome aberrations (CCA) and to evaluate their association with hematologic malignancies. Our population included 1235 pediatric patients and 3649 adults. Twenty six (0.53%) cases showed CCA. They included 5 patients with Robertsonian translocations, one patient with a balanced translocation, 2 patients with sex chromosome abnormalities and 18 cases with Down´s Syndrome (DS). Non significant differences between the frequency of patients with CCA from our hematologic series and those observed in two largest combined surveys of liveborns published (0.65%-0.74%) were found. The incidence of DS patients in our population (0.36%) was about three times higher than of that seen at birth (0.12%-0.16%) (p<0.001). The total incidence of constitutional chromosome abnormalities in the non DS hematologic patients was 0.164% (8/4884) lower than of that observed in the newborn population (0.51%-0.67%) (p<0.001), supporting the idea that DS patients are at greater risk of developing acute leukemia than normal subjects of the same age. Non significant differences were found when the incidences of structural aberrations and sex chromosome anomalies were individually compared with the data of the overall population. In conclusion, our results did not show significant differences in the incidence of individuals with CCA compared with the overall population, suggesting  that the presence of a CCA, other than DS, would not predispose to hematologic malignancies.