Abstract:
: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.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Rivera H,Domínguez MG,Vásquez-Velásquez AI,Lurie IWdoi
10.1159/000351184subject
Has Abstractpub_date
2013-01-01 00:00:00pages
58-63issue
1eissn
1424-8581issn
1424-859Xpii
000351184journal_volume
141pub_type
杂志文章abstract::Three activities hallmark meiotic cell division: homologous chromosome pairing, synapsis, and recombination. Recombination and synapsis are well-studied but homologous pairing still holds many black boxes. In the past several years, many studies in plants have yielded insights into the mechanisms of chromosome pairing...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000121080
更新日期:2008-01-01 00:00:00
abstract::This article presents the first physical mapping carried out in the Senegalese sole (Solea senegalensis), an important marine fish species of Southern Europe. Eight probes were designated to pick up genes of interest in aquaculture (candidate genes) from a bacterial artificial chromosome (BAC) library using a method o...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000355001
更新日期:2013-01-01 00:00:00
abstract::Variations of gene copy number in the human genome are increasingly recognized as a genetic factor in phenotypic variation. Human CC chemokine ligand 3-like 1 gene (CCL3L1), which is located on human chromosome 17q11.2, is highly variable in copy number owing to having a hot spot for segmental duplications. CCL3L1, a ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000184703
更新日期:2008-01-01 00:00:00
abstract::Plant meiosis studies have enjoyed a fantastic boom in recent years with the use of Arabidopsis thaliana as a model not only for molecular genetics and genomics but also for cytogenetics. In this article we describe a new protocol for immunolabelling meiotic proteins that allows the detection of a large range of prote...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000314096
更新日期:2010-07-01 00:00:00
abstract::Based on the analysis of 20 different monocot and eudicot species, we propose that the centromeric distribution of the phosphorylated histone H2AThr120 is evolutionary highly conserved across species with mono- and holocentric chromosomes. Therefore, antibodies recognizing the phosphorylated threonine 120 of the histo...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000360018
更新日期:2014-01-01 00:00:00
abstract::Sources of environmental exposures to potentially aneugenic agents are many and include occupational and therapeutic exposures, and exposures associated with lifestyle habits. In this present study, some of these agents and exposure scenarios are discussed that involve potentially large population targets and/or seem ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000323284
更新日期:2011-01-01 00:00:00
abstract::The etiology of primary cutaneous T-cell lymphomas (CTCL) has been poorly understood. CTCL patients show a large variety of non-clonal and clonal chromosome aberrations, but no specific aberration has been found until recently. This review describes cytogenetic and molecular cytogenetic findings and their relevance to...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000108320
更新日期:2007-01-01 00:00:00
abstract::We characterized the DTF2 satellite DNA family of the clam Donaxtrunculus and compared its chromosomal localization with cytogenetic data revealed by fluorochrome banding, C-banding, and 28S rDNA FISH. In contrast to the other satellites detected previously in this species, DTF2 is an abundant (2%) GC-rich satellite t...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000200089
更新日期:2009-01-01 00:00:00
abstract::Radiation-induced chromosome damage can be measured in interphase using the Premature Chromosome Condensation (PCC) technique. With the introduction of a new PCC technique using the potent phosphatase inhibitor calyculin-A, chromosomes can be condensed within five minutes, and it is now possible to examine the early d...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000077491
更新日期:2004-01-01 00:00:00
abstract::KLF13 and FGFR3 have important cellular functions and each is believed to play a role in cancer. KLF13 is a transcription factor required for the expression of several oncogenes. FGFR3 is a fibroblast growth factor receptor that initiates a signaling cascade leading to the activation of numerous cellular pathways. Her...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000308303
更新日期:2010-06-01 00:00:00
abstract::It is widely accepted that unrepaired or misrepaired DNA double strand breaks (DSBs) lead to the formation of chromosome aberrations. DSBs induced in the DNA of higher eukaryotes by endogenous processes or exogenous agents can in principle be repaired either by non-homologous endjoining (NHEJ), or homology directed re...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000077461
更新日期:2004-01-01 00:00:00
abstract::Neacomys (Sigmodontinae) comprises 8 species mainly found in the Amazonian region. We describe 5 new karyotypes from Brazilian Amazonia: 2 cytotypes for N. paracou (2n = 56/FNa = 62-66), 1 for N. dubosti (2n = 64/FNa = 68), and 2 for Neacomys sp. (2n = 58/FNa = 64-70), with differences in the 18S rDNA. Telomeric probe...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000441173
更新日期:2015-01-01 00:00:00
abstract::1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 delet...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000504424
更新日期:2019-01-01 00:00:00
abstract::Genetic maps are based on the recombination frequency of molecular markers which often show different positions in comparison to the corresponding physical maps. To decipher the position and order of DNA sequences genetically mapped to terminal and interstitial regions of barley (Hordeum vulgare) chromosome 3H, fluore...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000478631
更新日期:2017-01-01 00:00:00
abstract::Cytogenetic maps depict the location and order of markers along chromosomes. Cytogenetic maps are important in genome research as they relate the genetic data and molecular sequences to the morphological features of chromosomes. In this paper, we discuss various methods used in cytogenetic mapping in maize, with speci...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000082383
更新日期:2005-01-01 00:00:00
abstract::The nuclear organization of spermatocytes in meiotic prophase I is primarily determined by the synaptic organization of the bivalents that are bound by their telomeres to the nuclear envelope and described as arc-shaped trajectories through the 3D nuclear space. However, over this basic meiotic organization, a spermat...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000460811
更新日期:2017-01-01 00:00:00
abstract::Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying de novo microdeletions ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000218743
更新日期:2009-01-01 00:00:00
abstract::The identification of individual dog chromosomes is problematic because the 38 pairs of autosomes are small and acrocentric. Here we describe the design and application of a FISH tool that enables definitive identification of each dog autosome in a normal karyotype, without relying on subjective interpretation of DAPI...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000098187
更新日期:2007-01-01 00:00:00
abstract::2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial app...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000452090
更新日期:2016-01-01 00:00:00
abstract::Rye B chromosomes (Bs) have strong parasitic effects on fertility. B carrying plants are less fertile than 0B ones, whereas the Bs have no significant effects on plant vigour. On the other hand, it has been reported that B transmission is under genetic control in such a way that H line plants transmit the Bs at high f...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000079316
更新日期:2004-01-01 00:00:00
abstract::The chromosomal band 17q21.31, containing the microtubule-associated protein tau (MAPT) gene, is a hotspot for chromosomal rearrangements. It is known to contain a common inversion polymorphism of approximately 900 kb in populations with European ancestry. The inverted configuration is linked to a distinct MAPT haplot...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000315901
更新日期:2010-01-01 00:00:00
abstract::RNA interference (RNAi) refers to the selective degradation of mRNA induced by double-stranded RNA (dsRNA), first discovered in Caenorhabditis elegans. Homology-dependent silencing phenomena related to RNAi have been observed in many species from all eukaryotic kingdoms. RNAi and related mechanisms share several conse...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000078215
更新日期:2004-01-01 00:00:00
abstract::Phaseolus vulgaris has two 5S rDNA sites in chromosomes 6 and 10 and from two up to nine 45S rDNA sites depending on the accession. The presence of three 45S rDNA sites, in chromosomes 6, 9 and 10, is considered the ancestral state for the species. For P. lunatus, only one 5S and one 45S rDNA sites in distinct chromos...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000321677
更新日期:2011-01-01 00:00:00
abstract::In 1957/58 the British Government conducted a series of nuclear tests in the mid-Pacific codenamed Operation Grapple, which involved several naval vessels from Britain and New Zealand. Two New Zealand frigates with 551 personnel onboard were stationed at various distances between 20 and 150 nautical miles from ground ...
journal_title:Cytogenetic and genome research
pub_type: 历史文章,杂志文章
doi:10.1159/000125832
更新日期:2008-01-01 00:00:00
abstract::The Congo African grey parrot (Psittacus erithacus, PER) is an endemic species of Central Africa, valued for its intelligence and listed as vulnerable due to poaching and habitat destruction. Improved knowledge about the P. erithacus genome is needed to address key biological questions and conservation of this species...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000444136
更新日期:2015-01-01 00:00:00
abstract::A comparative cytogenetic analysis was carried out on four Hylinae tree frogs from Brazil ((Aparasphenodon brunoi, Corythomantis greeningi, Osteocephalus langsdorffii, and Scinax fuscovarius) using Giemsa staining, BrdU replication banding, Ag-NOR staining, C-banding, DAPI and CMA(3) fluorochrome staining, and fluores...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000076304
更新日期:2003-01-01 00:00:00
abstract::Fragile sites are intriguing cytogenetic phenomena that have been extensively investigated in human and laboratory animal chromosomes over the past 40 years, but domestic animal species have been studied sporadically. Interest in the field has been recently renewed as increasing numbers of fragile site regions are clo...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000245910
更新日期:2009-01-01 00:00:00
abstract::High density livestock to human comparative maps are necessary for the implementation of comparative positional candidate gene cloning. We have constructed a high-density comparative radiation hybrid (RH) map of the telomeric end of bovine chromosome 2 (BTA2) using a 12,000-rad whole genome cattle-hamster radiation hy...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000076295
更新日期:2003-01-01 00:00:00
abstract::We analyzed genetic changes in condylomas (four cases), vulvar intraepithelial neoplasia I-III (VIN I-III, eleven cases), and primary vulvar squamous cell carcinomas (VSCC, ten cases) by high-resolution comparative genomic hybridization (HR-CGH) and flowcytometry. All samples were also human papilloma virus (HPV)-geno...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000078559
更新日期:2004-01-01 00:00:00
abstract::In the zebra finch, 2 alternative morphs regarding centromere position were described for chromosome 6. This polymorphism was interpreted to be the result of a pericentric inversion, but other causes of the centromere repositioning were not ruled out. We used immunofluorescence localization to examine the distribution...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000442656
更新日期:2015-01-01 00:00:00