RESUMO
Chronic basophilic leukemia is a rare form in chronic myeloid leukemia patients. Only limited number of reports are available. Herein, we describe a patient who presented with fatigue, weight loss, leucocytosis, prominent basophilia, and mild eosinophilia. On biopsy, bone marrow was hypercellular with marked basophils. The immunophenotype showed abnormal expression of CD7, which is suggestive of basophilic maturation. Chromosomal analysis from GTG-banded metaphases revealed Ph positivity, and fluorescence in situ hybridization (FISH) with BCR/ABL dual color, dual fusion probe showed single fusion on the der(22) chromosome and ABL/BCR fusion was deleted on the der(9) chromosome. The deletion (ABL/BCR) on der(9) may be associated with basophilia which may be also indicative of the transformation of CML to acute myeloid leukemia.
Assuntos
Adulto , Basófilos/análise , Deleção Cromossômica , Humanos , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/diagnóstico , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , MasculinoRESUMO
We report a case of familial small supernumerary marker chromosome (sSMC) in a child with translocation Down syndrome (DS)and mother.The GTG-banded chromosomal analysis of DS child revealed 47,XY,+21,+mar and mother karyotype was 47,XX,+mar.The GTG-banded sSMC had a similar morphology of small acrocentric chromosomes .Fluorescence in situ hybridization (FISH)evaluation of sSMC using centromere probes(13/21,14/22,22)confirmed sSMC as derivative chromosome 14.The sSMC was not specifically stained with whole chromosome paint and arm-specific probes for chromosome 14;thus it has been described as der(14)(:p11-q11:).The phenotypic changes were not evident, may be due to trisomy condition in the child or the sSMC contain repetitive sequences.
Assuntos
Adolescente , Bandeamento Cromossômico , Cromossomos Humanos Par 14/genética , Síndrome de Down/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Translocação Genética/genética , Trissomia/genéticaRESUMO
Background & objectives: 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. The present study was therefore undertaken to study the aetiology and frequency of chromosomal changes in MDS patients, attending a tertiary care hospital in Maharashtra, India. Methods: The study was carried out in 145 MDS patients for six years (2001-2006) at National Institute of Immunohaematology (ICMR), and KEM Hospital, Mumbai, India. The patients were diagnosed according to FAB and WHO classification. Cytogenetic study was carried out using GTG-banding and fluorescence in situ hybridization (FISH) methods. Statistical analysis was done with c2 and Fisher’s exact test. Results: Chromosomal abnormalities, including novel chromosome aberrations were detected in 54.48 per cent MDS patients and frequency of chromosomal aberrations increased with increase in age (>30 yr). Among occupational exposure factors, chromosomal aberrations significantly (P<0.05) associated with pesticides exposure. Interpretation & conclusion: Our findings showed 54.48 per cent chromosome abnormalities including novel chromosome aberrations in MDS patients and these chromosome aberrations were increased with advancing age. In our series a high frequency of younger population (53%) developed MDS, a detailed molecular genetics and aetiological factors need to be studied.
Assuntos
Adulto , Fatores Etários , Animais , Aberrações Cromossômicas/induzido quimicamente , Citogenética , Feminino , Humanos , Hibridização in Situ Fluorescente , Índia , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/induzido quimicamente , Síndromes Mielodisplásicas/genética , Exposição Ocupacional/efeitos adversosRESUMO
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). Chromosomal analysis of the father was normal and phenotypically normal mother had 46,XX,t(9;12)(p12;q13) karyotype. Fluorescence in situ hybridization analysis with single copy probes bA5OIA2 (9p11.2), bA562M8 (12p12.1) and centromere probes (9) showed break point at 9p12.1 region. The gene dosage effect of Chromosome 9p along with environmental factors might be associated with Dandy- Walker malformations in the patient.