A three way complex translocation (4;9;22) in two patients with chronic myelocytic leukemia

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Triple marker study in midtrimester of pregnancy and risk of chromosomal abnormality

Abstract Objectives : Every year about 18,000 babies are born in India with trisomy 21. With the availability of well established, documented and widely used maternal serum triplemarker screening during midtrimester of pregnancy, every pregnancy can be monitored for the most common aneuploidy like trisomy 21, trisomy 13, and trisomy 18 in addition to open neural tube defects. Methods : MoM values were derived from 1738 normal pregnant women between 14-20 weeks of gestation who later had full term normal delivery. Two thousand one hundred and eleven women were investigated by triple marker screening between 14-20 weeks of gestation. Results : Two hundred twenty four women were considered as screen positive for trisomy 21, of which, 105 were further investigated for karyotyping and eight of these had trisomy 21, one each had mosaic trisomy 21, der (14:15) and del (X) (p11). Twentythree women with low hCG MoM were considered as screen negative for trisomy 21 and trisomy 18 but positive for other chromosomal abnormalities like iso (X) (q10) and der (13:14) one each, and two with polyploidy. Conclusion : The results suggest that triple marker screening is an effective screening program for noninvasive diagnosis of pregnancies with suspected Down syndrome fetus and also detects other chromosomal anomalies

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality

Terminal 11q deletion, known as Jacobsen syndrome (JBS), is a rare genetic disorder associated with numerous dysmorphic features. We studied two cases with multiple congenital anomalies that were cytogenetically detected with deletions on 11q encompassing JBS region: 46,XX,der(11) del(11)(q24). Array comparative genomic hybridization (aCGH) analysis confirmed partial deletion of 11.8–11.9 Mb at 11q24.1q25 (case 1) and 13.9–14 Mb deletion at 11q23.3q25 together with 7.3–7.6 Mb duplication at 12q24.32q24.33 (case 2). Dysmorphism because of the partial duplication of 12q was not overtly decipherable over the Jacobsen phenotype except for a triangular facial profile. Aberrant chromosome 11 was inherited from phenotypically normal father, carrier of balanced translocation 46,XY,t(11;12)(q23.3; q24.32). In the present study, both cases had phenotypes that were milder than the ones described in literature despite having large deletion size. Most prominent features in classical JBS is thrombocytopenia, which was absent in both these cases. Therefore, detailed functional analysis of terminal 11q region is warranted to elucidate etiology of JBS and their clinical presentation

Usefulness of cytogenetics in leukemias

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Usefulness of Cytogenetics in Leukemias

Present study consists of cytogenetic evaluation in 141 cases referred to our centre for various leukemias. This includes 110 cases of CML, 10 of ALL, 16 of AML (M3), 2 of AML(M2), 2 of MDS & 1 of CMML. The conventional cytogenetic study was carried out in all the cases using G Banding technique. Of the 141 patients studied, 17 patients showed secondary chromosomal alterations along with primary chromosomal alterations. In two patients of CML with secondary chromosomal alteration t(4:9:22), molecular cytogenetic technique (FISH) has been carried out which has confirmed the primary observations revealed by the conventional cytogenetic technique. Other secondary alterations were numerous and would have been missed if only FISH or PCR technique would have been used for diagnosis. We observed from our study that advanced molecular techniques like FISH & PCR cannot replace the conventional cytogenetic study but are useful as supportive and confirmative diagnostic tools