نتایج جستجو برای: familial translocations
تعداد نتایج: 61491 فیلتر نتایج به سال:
Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.
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...
Nonhomologous end-joining (NHEJ) is the primary DNA repair pathway thought to underlie chromosomal translocations and other genomic rearrangements in somatic cells. The canonical NHEJ pathway, including DNA ligase IV (Lig4), suppresses genomic instability and chromosomal translocations, leading to the notion that a poorly defined, alternative NHEJ (alt-NHEJ) pathway generates these rearrangemen...
Background Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs). The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously. Materia...
Translocation of animals to re-establish extirpated populations or to maintain declining ones has often been carried out without genetic information on source or target populations, or adequate consideration of the potential effects of mixing genetic stocks. We consider the conservation status of the fisher (Martes pennanti) and evaluate the potential genetic consequences of past and future tra...
(Mikkelsen 1967) -3% (BrƒÓgger 1967); in patients born to mothers younger than 30 years it is 8.3%, and in those born to mothers older than 30 years it is 1.2% (Mikkelsen 1967). Between the patients born to mothers older and younger than 30 years the difference is highly statistically significant. The frequency of D/G translocations is about the same as the frequence of G/G translocations. Abou...
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