Parental Origin and Timing of De Novo Robertsonian Translocation Formation
نویسندگان
چکیده
منابع مشابه
Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.
De novo cytogenetically balanced reciprocal non-Robertsonian translocations are rare findings in clinical cytogenetics and might be associated with an abnormal phenotype. Knowledge of the parental origin and mechanisms of formation is still limited. By microdissection of the derivative chromosomes and their normal homologs from metaphases followed by microsatellite-mediated marker analysis we i...
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Cytogenetic, FISH, and molecular results of 20 cases with de novo tandem duplications of 18 different autosomal chromosome segments are reported. There were 12 cases with direct duplications, three cases with inverted duplications, and five in whom determination of direction was not possible. In seven cases a rearrangement between non-sister chromatids (N-SCR) was found, whereas in the remainin...
متن کاملParental mosaicism in de novo translocation (21q21q) Down's syndrome.
Parental mosaicism for t(21q21q) has been found in six out of 11 families in which recurrence of a de novo 2lq2lq translocation Down's syndrome was observed. 1-3 Therefore, Hall' proposed that in the parents of children with de novo 21q21q Down's syndrome the analysis of additional cells and also skin fibroblasts studies should be considered for the detection of cryptic mosaicism. Support for t...
متن کاملOn the parental origin of de novo mutation in man.
Studies tracing parental origins of human mutations by means of cytogenetic polymorphisms and RFLPs show that most trisomics arise out of maternal errors of segregation at the first meiotic division in oocytes. Temporal disturbance of meiotic progression seems likely to underly aneuploidy production in the female mouse, and this could equally be true in women, most especially as they approach t...
متن کاملObligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction.
Robertsonian translocations (ROBs) involving chromosome 21 are found in approximately 5% of patients with Down syndrome (DS). The most common nonhomologous ROB in DS is rob(14q21q). Aberrant recombination is associated with nondisjunction (NDJ) leading to trisomy 21. Haplotype analysis of 23 patients with DS and de novo rob(14q21q) showed that all translocations and all nondisjoined chromosomes...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2002
ISSN: 0002-9297
DOI: 10.1086/344662