نتایج جستجو برای: familial translocations

تعداد نتایج: 61491  

Journal: :Theoretical population biology 2002
David Sankoff Melanie Deneault Pascal Turbis Chris Allen

We extract 11 genome-wide sets of breakpoint positions from databases on reciprocal translocations, inversions and deletions in neoplasms, reciprocal translocations and inversions in families carrying rearrangements and the human-mouse comparative map, and for each set of positions construct breakpoint distributions for the 44 autosomal arms. We identify and interpret four main types of distrib...

Journal: :Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie 2012
L De Lorenzi P Morando J Planas M Zannotti L Molteni P Parma

Chromosomal anomalies, like Robertsonian and reciprocal translocations, represent a big problem in cattle breeding as their presence induces, in the carrier subjects, a well-documented fertility reduction. In cattle, reciprocal translocations (RCPs, a chromosome abnormality caused by an exchange of material between non-homologous chromosomes) are considered rare as to date only 19 reciprocal tr...

Journal: :iranian journal of public health 0
h galehdari n abedini r kazeminezhad m pedram mr seyefi m ghafourian

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...

Journal: :cell journal 0

objective: the present retrospective study aims at identifying the prevalence of chromosomal abnormalities in a population of couples who are candidates for assisted reproductive techniques. materials and methods: cytogenetic analysis was performed according to the standard methods on cultured cells from the patients’ peripheral blood. the culture, was harvested after 72 hours. at least 20 meta...

2010
Jiying Sun Yukako Oma Masahiko Harata Kazuteru Kono Hiroki Shima Aiko Kinomura Tsuyoshi Ikura Hidekazu Suzuki Shuki Mizutani Roland Kanaar Satoshi Tashiro

Chromosome translocations induced by DNA damaging agents, such as ionizing radiation and certain chemotherapies, alter genetic information resulting in malignant transformation. Abrogation or loss of the ataxia-telangiectasia mutated (ATM) protein, a DNA damage signaling regulator, increases the incidence of chromosome translocations. However, how ATM protects cells from chromosome translocatio...

Journal: :Fertility and sterility 2000
S Munné M Sandalinas T Escudero J Fung L Gianaroli J Cohen

OBJECTIVE To review 35 cases of preimplantation genetic diagnosis (PGD) of translocations with several methods, including telomeric probes. DESIGN Retrospective study. SETTING Clinical IVF laboratory. PATIENT(S) Thirty-five couples with one partner carrying a chromosomal translocation. INTERVENTION(S) PGD of translocation after polar-body or embryo biopsy. MAIN OUTCOME MEASURE(S) Preg...

2001
Holger Tönnies Markus Stumm Luitgard Neumann Marianne Volleth Uta Grumpelt Jörg Müsebeck Gisela Annuss Heidemarie Neitzel

EDITOR—In the October 2000 issue of the journal, five new cases of unbalanced translocations with partial monosomy 4p and partial trisomy 8p were described by Wieczorek et al and the authors concluded that de novo translocations causing Wolf-Hirschhorn syndrome (WHS) are more frequent than previously estimated. In particular, unbalanced de novo translocations involving the short arms of chromos...

Journal: :Current Opinion in Hematology 2008

Journal: :Reproductive BioMedicine Online 2010

2014
Sonal S Joshi Han Cheong Victoria H Meller

We describe a method for generation and maintenance of translocations that move large autosomal segments onto the Y chromosome. Using this strategy we produced ( 2;Y) translocations that relocate between 1.5 and 4.8 Mb of the 2nd chromosome.. All translocations were easily balanced over a male-specific lethal 1 (msl-1) mutant chromosome. Both halves of the translocation carry visible markers, a...

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