De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation

التفاصيل البيبلوغرافية
العنوان: De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation
المؤلفون: I W Lurie, A I Vásquez-Velásquez, M G Domínguez, Horacio Rivera
المصدر: Cytogenetic and genome research. 141(1)
سنة النشر: 2012
مصطلحات موضوعية: Adult, Male, Inheritance Patterns, Biology, Young Adult, Meiosis, Risk Factors, Chromosome instability, Chromosomal Instability, Chromosome Duplication, Prohibitins, Genetics, Chromosomes, Human, Humans, Molecular Biology, Small supernumerary marker chromosome, Genetics (clinical), X chromosome, Chromosomal inversion, Recombination, Genetic, Autosome, Age Factors, Telomere, Genetics, Population, Mutation (genetic algorithm), Chromosome Inversion, Mutation, Female, Ploidy, Chromosome Deletion
الوصف: We compiled 104 constitutional de novo or sporadic rearranged chromosomes mimicking recombinants from a parental pericentric inversion in order to comment on their occurrence and parental derivation, meiotic or postzygotic origin, mean parental ages, and underlying pathways. Chromosomes involved were 1-9, 13-18, 20-22, and X (64 autosomes and 40 X chromosomes). In the whole series, mean paternal and maternal ages in cases of paternal (proved or possible; n = 29) or maternal (proved or possible; n = 36) descent were 31.14 and 28.31 years, respectively. Rearranged X chromosomes appeared to be of paternal descent and to arise through intrachromosomal non-allelic homologous recombination (NAHR), whereas rec-like autosomes were of either maternal or paternal origin and resulted from mechanisms proper of non-recurrent rearrangements. Except for some mosaic cases, most rearranged chromosomes apparently had a meiotic origin. Except for 8 rearranged X chromosomes transmitted maternally, all other cases compiled here were sporadic. Hence, the recurrence risk for sibs of propositi born to euploid parents is virtually zero, regardless of the imbalance's size. In brief, recombinant-like or rea chromosomes are not related to advanced parental age, may (chromosome X) or may not (autosomes) have a parent-of-origin bias, arise in meiosis or postzygotically, and appear to be mediated by NAHR, nonhomologous end joining, and telomere transposition. Because rearranged chromosomes 10, 11, and Y are also on record, albeit just in abstracts or listed in large series, we remark that all chromosomes can undergo this distinct rearrangement, even if it is still to be described for pairs 12 and 19.
تدمد: 1424-859X
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8c8cb3d9af509673baa06480b697cf
https://pubmed.ncbi.nlm.nih.gov/23735430
حقوق: CLOSED
رقم الأكسشن: edsair.doi.dedup.....2d8c8cb3d9af509673baa06480b697cf
قاعدة البيانات: OpenAIRE