International Journal of Genetics and Genomics 2014; 2(4): 77-79 Published online August 30, 2014 (http://www.sciencepublishinggroup.com/j/ijgg) doi: 10.11648/j.ijgg.20140204.15 Trisomy 19 as the sole chromosomal abnormality in CML Salil N. Vaniawala, Pankaj K. Gadhia * Molecular Cytogenetic Unit, S. N. Gene Laboratory and Research Centre, President Plaza – A, Near RTO Circle, Surat, India Email address: pankajkgadhia@gmail.com (P. K. Gadhia), salil@sngenelab.com (S. N. Vaniawala) To cite this article: Salil N. Vaniawala, Pankaj K. Gadhia. Trisomy 19 as the Sole Chromosomal Abnormality in CML. International Journal of Genetics and Genomics. Vol. 2, No. 4, 2014, pp. 77-79. doi: 10.11648/j.ijgg.20140204.15 Abstract: Presence of trisomy 19 in chronic myeloid leukemia (CML) normally considered as secondary abnormality but trisomy 19 rarely occur as sole abnormality. In the present study a total of 2312 Ph positive CML were screened from year2004 to 2014 and we found 2 cases of trisomy 19 as sole karyotype abnormalities. Both karyotype showed 47,XY,t(9;22)(q34;q11.2),+19,complements. It is not known that which gene(s) present on chromosome 19 plays important role in development of this condition. Keywords: Trisomy 19, Sole Chromosome Abnormality, CML 1. Introduction Chronic myeloid leukemia (CML) is characterised by the Philadelphia chromosome (Ph) which is originated by a balanced translocation between chromosome 9 and 22 that is t(9;22)(q34;q11.2) in more than 90% of the patients. The crucial pathogenetic consequence of this translocation is the creation of a chimeric BCR/ABL gene on derivative chromosome 22[1]. This chimeric protein is associated with an increased tyrosine kinase activity which plays an important role in pathogenesis of CML [2]. Trisomy 19 as a sole abnormality is a rare event normally associated with myeloid malignancies and it was described involving various hematological malignancies [3]. The occurrence of additional chromosomal aberrations (ACA) in Ph-positive CML is strongly associated with disease progression and involved in clonal evolution and chromosomal instability [4, 5]. During our screening, we encountered two cases in which trisomy 19 occurred as the sole abnormality. In the present case report we describe in detail clinical and cytogenetic findings of two patients with CML positive and +19 as a sole anomaly. Case – 1 A 34 year old male patient’s blood/bone-marrow was received for diagnosis of CML. His complete blood cell count revealed an Hb concentration 8.3 X g/dL, platelet count 310X 10 9 /L and a WBC 8.1 X 10 9 with 85%blast and bone-marrow recorded to have 93% blast. Cytogenetic analysis was performed using one part directly terminated and other part was incubated in Marrow max medium for 18 to 20 hours. G-banding was performed and G-banded karyotype was prepared according to guidelines of International Sysytem for Human Cytogenetics Nomenclature (ISCN)(2009 & 2013)[6]. His karyotyped showed 47, XY, t(9;22)(q34;q11.2),+19 (Fig.-1). Case - 2 A 23 year old male was referred to our laboratory for diagnosis of CML. His blood picture revealed Hb 7.2 g/dL, a platelet count was 230 X10 9/ L, a WBC Of 6.3 X10 9 /L. Bone marrow showed only 45% blast cells. Cytogenetic analysis of bone-marrow showed 47,XY,t(9;22)(q34; q11.2).+19 (Fig.-2)