Chromosomal Aberrations in Primary Amenorrhea: A Retrospective Study.

Objectives: The aim of this study was to estimate the frequency of chromosomal abnormalities and establish the association with clinical of factors such as secondary sexual characters and gonad development in primary amenorrhea (PA).

Study Design: The study was carried out in a large cohort of PA. The chromosomal aberrations were correlated with secondary sexual characters and anatomical abnormalities.

Centrosome Aberration Frequency and Disease Association in B-Acute Lymphoblastic Leukemia.

Recent developments in genome-wide genetic analysis in B-acute lymphoblastic leukemia (B-ALL) have provided insight into disease pathogenesis and prognosis. B-ALL cases usually carry a primary genetic event, often a chromosome translocation, and a constellation of secondary genetic alterations that are acquired and selected dynamically in a nonlinear fashion. As far as we are aware of, for the first time, we studied centrosome aberration in patients with B-ALL to understand the progression of the disease.

Circulating microfilariae in haematological malignancies: do they have a role in pathogenesis?

Filariasis is very common in tropical countries. It is endemic in the coastal areas of India. We report four cases of haematological malignancy where peripheral blood and bone marrow smears did not show any microfilariae but conventional cytogenetic preparations from all the four cases showed the presence of parasites.

Pattern of chromosome involvement in childhood hyperdiploid pre-B-cell acute lymhoblastic leukemia cases from India.

Background: Hyperdiploid pre-B-cell acute lymhoblastic leukemia (pre-B-ALL) is a common form of childhood leukemia with very good prognosis with present day chemotherapy. However, the chromosomal composition of the hyperdiploidy has not been extensively studied and possible mechanism for this pathology remains so far conjectural.

Objective: To analyze the pattern of chromosome involvement in a cohort of childhood hyperdiploid pre-B-ALL from India and from this pattern to develop an understanding on the causation of such pathology.

Chimeric fusion karyotypes in childhood B-cell acute lymphoblastic leukemia.

Cytogenetics study using combination of conventional cytogenetics and fluorescent insitu hybridization was carried out in 171 pediatric acute lymphoblastic leukemia patients subgrouped to B-ALL (n=126) and T-ALL (n=45) by bone marrow morphology and immunophenotype. The chromosomal aberration frequency in B-ALL and T-ALL was 79% and 71%, respectively. TEL/AML1 translocation was detected in 28% of patients.

Standard karyotyping concentrates microfilaria and can be a valid concentrating technique for their detection.

During karyotype preparation from the bone marrow aspirates of 209 haematological malignancy cases, microfilaria were detected in four samples, whereas routine marrow and peripheral blood smears of these four cases did not show any parasite. The patients were recalled, and their peripheral blood was processed by karyotyping and standard concentration techniques. Karyotype preparation from peripheral blood was performed with and without addition of colchicine.

FLT3 and NPM1 mutations in a cohort of AML patients and detection of a novel mutation in tyrosine kinase domain of FLT3 gene from Western India.

Acute myeloid leukemia (AML) is an aggressive hematological disorder characterized by the loss of ability of the hematopoietic progenitor cells to differentiate and proliferate normally leading to an accumulation of immature myeloid cells in the bone marrow. Several novel molecular genetic aberrations in FLT3 and NPM1 have been shown to have a prognostic impact in AML, particularly in those having normal karyotype. Though there is substantial amount of data on these mutations from western literature, there is surprisingly little data from Indian subcontinent on the frequency of this mutation in AML patients from India.

DNA copy number changes and immunophenotype pattern in karyotypically normal acute myeloid leukemia patients from an Indian population.

Chromosomal abnormalities are important in the diagnosis and prognosis of patients with acute myeloid leukemia (AML). The purpose of this study was to identify DNA copy number variations in karyotypically normal AML patients and their correlation with immunophenotypes. Conventional comparative genomic hybridization (CGH) and immunophenotyping were performed in 46 untreated AML patients aged 7-68 years.

Cytogenetic study of myelodysplastic syndrome from India.

Background & Objective: Myelodysplastic syndrome (MDS) represents a group of clonal haematological disorders characterized by progressive cytopenia reflecting defects in erythroid, myeloid and megakaryocytic maturation. The incidence of MDS is more in older age groups and frequent chromosome abnormalities reported to be monosomies 5 and 7. However, the data on cytogenetic changes in Indian MDS patients are scanty.

Three way translocation in a new variant of t(8;21) acute myeloid leukemia involving Xp22.

The t(8;21)(q22;q22) is one of the most frequent chromosomal abnormality associated with acute myeloid leukemia (AML) M2 sub type. The additional chromosomal abnormalities including structural and numerical are frequently reported with the translocation, t (8;21)(q22;q22). We report a case of AML-M2 with t(X;8;21)(p22;q22;q22) associated with loss of Y chromosome.

Chromosomal breakage in myelodysplatic syndrome.

The myelodysplastic syndrome (MDS) represents a group of clonal hematological disorders characterized by progressive cytopenia reflecting defects in erythroid, myeloid and mega karyocytic maturation. The incidence of MDS is greter in older age groups. Detailed studies on MDS from India are not available.

Differentiation of Nijmegen breakage syndrome from Fanconi anemia.

Nijmegen breakage syndrome (NBS) is a rare auto-somal recessive condition with chromosomal instability. Clinical and biological overlap between Fanconi anemia and ataxia telangiectasia has been reported. We report two cases of NBS born to consanguineous parents.

Dandy-Walker malformations in a case of partial trisomy 9p (p12.1→pter) due to maternal translocation t(9;12)(p12.1;p13.3).

We describe a five-year-old proband presented with Dandy-Walker malformations, right microopthalmia, hamstring contractures, undescended testis with absence of testis in right scrotum in addition to typical trisomy 9p clinical features. Routine cytogenetic studies with GTG - banding showed 46,XY,der(12)t(9;12) (p12;q13.3),mat karyotype (trisomy 9p).

Maternal origin of extra marker chromosome 1Q31.1-qter and 13pter-q12.12 in a child with dysmorhic features.

Maternal origin of extra marker chromosome Iq31.l-qter and 13pter-q12.12 in a child with dysmorphic features: We describe a twenty-days-old female child with dysmorphic features and chromosomal analysis with GTG-banding revealed an extra marker chromosome.

18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype.

A dysmorphic male child of 8 months age presented with microphthalmia, micrognathia, hypertelorism, wide anterior fontanelles, large forehead, short neck, prominent ears, macrotestis and delayed developmental milestones. The patient presented with generalised seizures hydrocephalaus and Coarctation of aorta (Pre subclavian). He also had mild hypocalcaemia with normal renal function.