Robertsonian translocation as an acquired karyotypic abnormality in leukaemia
نویسندگان
چکیده
منابع مشابه
Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers.
Male carriers of Robertsonian (Rob) translocations can have fertility problems associated with low sperm counts and abnormal sperm morphology. In this study, spermatozoa from 14 Rob translocation carriers, seven der(13;14), two der(13;15), two der(14;15), two der(14;21) and one der(21;22), were tested by fluorescence in-situ hybridization (FISH) for the chromosomes involved, to study meiotic se...
متن کاملKaryotypic and molecular abnormalities in chronic lymphocytic leukaemia.
Introduction B cell chronic lymphocytic leukaemia (B-CLL) is the commonest type of adult leukaemia in the western world, accounting for over 40% of all adult patients with leukaemia.' About 50% of patients present with early stage, often asymptomatic disease. The disease may remain stable or slowly progress but at least half of all patients die of a cause unrelated to CLL. Age, sex, Binet stage...
متن کاملGaucher cells in chronic myelocytic leukemia: an acquired abnormality.
G AUCHER’S DISEASE is an inherited disorder1 of sphingolipid nietabolism caused by a deficiency of glucocerebrosidase.2”-’ The deficiency of this enzyme leads to the accumulation of its substrate, glucocerebroside,3 in reticuloendothelial cells, imparting to them their characteristic appearance. The presence of Gaucher cells was considered pathognomonic of this hereditary disorder until 1966 at...
متن کاملCd branding studies in a homologous Robertsonian 13;13 translocation.
A phenotypically normal female with a history of two miscarriages was found to have the karyotype 45,XX,t(13p:13p). C banding showed the translocation to have two regions of centromeric constitutive heterochromatin, silver staining showed an active NOR in 60% of the cells screened, and Cd banding studies showed a single Cd band with absence of the Cd band at the suppressed centromere.
متن کاملBreakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation.
Robertsonian translocations are the most common chromosomal rearrangements in humans. The vast majority of the ten possible nonhomologous types of Robertsonian translocations ascertained are rob(13q14q) and rob(14q21q). Recombination between homologous sequences on nonhomologous chromosomes has been proposed as a mechanism leading to the preferential formation of rob(13q14q) and rob(14q21q). Ho...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 1997
ISSN: 0007-1048,1365-2141
DOI: 10.1046/j.1365-2141.1997.1702992.x