a large number of simple or complex translocation involving the cml and aml chromosomal abnormalities has been described. this study was aimed to investigate the complex chromosome aberrations in the series of myeloid malignancies including cml and aml. the present report deals analyzed 187 consecutive with cml and aml patients, using methotrexate  cell synchronization and  un-stimulated cultur...

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

we are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. we emphasize the importance of family study in such cases.

background: wide range of disorders ranging from genetic disorders to coital difficulties can influence male fertility. in this regard, genetic factors are highlighted as the most frequent, contributed to 10-15%, of male infertility causes. objective: to investigate the influence of genetic abnormalities on semen quality and reproductive hormone levels of infertile men from northeast china. mat...

Background: Mosaicism of a normal cell population and an unbalanced autosomal chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor part of soma, the phenotype is expected to be normal. Case Report: We report a 29-year-old woman who had balance chromosomal translocation of 46,XX,t(5;21) with a 2-year-old affected girl, characterized by mental retardation, dys...

Recent studies have provided evidence that common genetic variations could account for a proportion of leukemia in adult or children. To evaluate the contribution of candidate gene association studies to the understanding of genetic susceptibility to acute lymphoblastic leukemia we conducted a systematic review from published studies. The polymorphisms of genes encoding carcinogen-metabolizi...

abstract chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. although x-autosome translocations are frequently associated with streak gonads and clinical features of the turner syndrome, the majority of x-autosome carriers may present with a variable phenotype, developmental delay, and recognizable x-linked syndrome...

Background: The human AML1 gene, located on chromosome 21, can be fused to the AML1- eight-twenty-one (ETO) oncoprotein on chromosome eight, resulting in a t(8;21)(q22;q22) translocation. Acute myeloid leukemia (AML) associated with this translocation is considered a distinct AML with a favorable prognosis. Due to the various incidences of the translocation, which is associated with geographic ...

The cytogenetic hallmark of Chronic Myeloid Leukemia (CML) is the presence Philadelphia (Ph) chromosome, which results from a reciprocal translocation t(9;22)(q34;q11). In this report, we describe CML patient with no evidence Ph chromosome but trisomy 8 as single abnormality and typical e14a2 (b3a2) BCR-ABL1 fusion transcript. Fluorescence Situ Hybridization (FISH) analysis revealed an uncommon...

recent studies have provided evidence that common genetic variations could account for a proportion of leukemia in adult or children. to evaluate the contribution of candidate gene association studies to the understanding of genetic susceptibility to acute lymphoblastic leukemia we conducted a systematic review from published studies. the polymorphisms of genes encoding carcinogen-metabolizing ...