Large-scale analysis of balanced chromosomal translocation breakpoints has shown nonhomologous end joining and microhomology-mediated repair to be the main drivers of interchromosomal structural aberrations. Breakpoint sequences of de novo unbalanced translocations have not yet been investigated systematically. We analyzed 12 de novo unbalanced translocations and mapped the breakpoints in nine....

Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers remain...

PURPOSE The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported. We investigated the incidence and clinicopathologic relationship of these chromosomal aberrations in ocular adnexal MALT lymphomas in a Korean population. METHODS Thirty ...

Growth and development in humans begin at conception, which shows progress interdependence. Normal children show the characteristic of growth development. In with disorder, chromosomal abnormality may be found. This study aimed to determine patients disorder. The samples were taken from karyotype results Medical Genetics Laboratory, Faculty Medicine, Universitas Wijaya Kusuma Surabaya, 2010-202...

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 ...

background: acute lymphoblastic leukemia (all) is the most common subtype of childhood cancer. chromosomal ab­normality, specially the replacement of chromosomal material is one of the main reasons in generating leukemia, wherein the kind of translocation play a key role in managing the remedy. the goal of the present study was to develop a reliable, rapid, and cost effective method to detect t...

chromosomal defects are relatively frequent in infertile men however, translocations between the y chromosome and autosomes are rare and less than 40 cases of y-autosome translocation have been reported. in particular, only three individuals has been described with a y;21 translocation, up to now. we report on an additional case of an infertile man in whom a y;21 translocation was associated wi...

background: carriers of translocations may have an increased risk of an unbalanced progeny due to imbalances and delays in meiosis. case: a 24-year-old pregnant iranian female was referred to the genetic department of yazd clinical and research centre for infertility because of her pregnancy history. she had three previous pregnancies, two of which ended in abortion. the one live born infant wa...

Recurrent reciprocal translocations are present in many hematologic and mesenchymal malignancies. Because significant sequence homology is absent from translocation breakpoint junctions, non-homologous end-joining (NHEJ) pathways of DNA repair are presumed to catalyze their formation. We developed translocation reporters for use in mammalian cells from which NHEJ events can be selected after pr...

Chromosomal translocations are frequent features of cancer genomes that contribute to disease progression. These rearrangements result from formation and illegitimate repair of DNA double-strand breaks (DSBs), a process that requires spatial colocalization of chromosomal breakpoints. The "contact first" hypothesis suggests that translocation partners colocalize in the nuclei of normal cells, pr...