Coamplification of multiple regions of chromosome 2, including MYCN, in a single patchwork amplicon in cancer cell lines.

abstract：:Nonmosaic trisomy involving 19p13.3p13.2 is a very uncommon abnormality. At present, only 12 cases with this genetic condition have been reported in the literature. However, the size of the trisomic fragment is heterogeneous and thus, the clinical spectrum is variable. Herein, we report the clinical and cytogenetic ch...

journal_title：Cytogenetic and genome research

authors： Martínez Anaya D,Fernández Hernández L,González Del Angel A,Alcántara Ortigoza MA,Ulloa Avilés V,Pérez Vera P

更新日期：2020-01-01 00:00:00

abstract：:Chromatin diminution (CD) is a phenomenon of programmed DNA elimination which takes place in early embryogenesis in some eukaryotes. The mechanism and biological role of CD remain largely unknown. During CD in the freshwater copepod Cyclops kolensis, the genome of cells of the somatic lineage is reorganized and reduce...

journal_title：Cytogenetic and genome research

authors： Grishanin AK,Zagoskin MV

更新日期：2018-01-01 00:00:00

abstract：:We describe the case of a male newborn with ring chromosome 13 found to have dysmorphic features, growth retardation, imperforate anus, and ambiguous genitalia. An initial karyotype showed 46,XY,r(13)(p13q34) in the 30 cells analyzed. SNP microarray from peripheral blood revealed not only an 8.14-Mb 13q33.2q34 deletio...

journal_title：Cytogenetic and genome research

authors： Kaylor J,Alfaro M,Ishwar A,Sailey C,Sawyer J,Zarate YA

更新日期：2014-01-01 00:00:00

abstract：:The common fragile sites (CFSs) are large regions of profound genomic instability found in all individuals. A number of the CFSs have been found to span genes that extend over large genomic regions (>700 kb). The expression of these genes is frequently abrogated in a number of different cancers and several of them hav...

journal_title：Cytogenetic and genome research

authors： Soderberg C,Perez DS,Ukpo OC,Liang X,O'Reilly AG,Moore EJ,Kademani D,Smith DI

更新日期：2008-01-01 00:00:00

abstract：:A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the...

journal_title：Cytogenetic and genome research

authors： Thibodeau ML,Steinraths M,Brown L,Zong Z,Shomer N,Taubert S,Mungall KL,Ma YP,Mueller R,Birol I,Lehman A

更新日期：2017-01-01 00:00:00

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...

journal_title：Cytogenetic and genome research

authors： Rivera H,Domínguez MG,Vásquez-Velásquez AI,Lurie IW

更新日期：2013-01-01 00:00:00

abstract：:To obtain an estimate of the variation in common fragile sites (CFSs) among individuals, aphidicolin (APC)-induced chromosomal breakage data were analyzed for 20 karyotypically normal adult humans. As it is specifically designed to meet the analytical requirements for considering fragile sites as presence/absence char...

journal_title：Cytogenetic and genome research

authors： Denison SR,Simper RK,Greenbaum IF

更新日期：2003-01-01 00:00:00

abstract：:The T2 family of miniature inverted-repeat transposable elements (T2-MITE) is a prevalent MITE family found in both Xenopus(Silurana) tropicalis and X. laevis. Some subfamilies, particularly T2-A1 and T2-C, may have originated prior to the diversification of the 2 Xenopus lineages and currently include active members ...

journal_title：Cytogenetic and genome research

authors： Hikosaka A,Uno Y,Matsuda Y

更新日期：2015-01-01 00:00:00

abstract：:In recent years increasing attention has been paid to the cytogenetic control of Italian Mediterranean river buffalo (BBU) bulls authorized as sires which are registered in the stud book. Chromosome abnormalities described in this species are mainly numerical and affecting sex chromosomes. During routine cytogenetic a...

journal_title：Cytogenetic and genome research

authors： Albarella S,Ciotola F,Coletta A,Genualdo V,Iannuzzi L,Peretti V

更新日期：2013-01-01 00:00:00

abstract：:Transposable elements (TE) constitute one of the most variable genomic features among vertebrates, impacting genome size, structure, and composition. Despite their important role in shaping genomic diversity, they have mostly been studied in mammals, which display one of the least diverse genomes in terms of TE divers...

journal_title：Cytogenetic and genome research

authors： Boissinot S,Bourgeois Y,Manthey JD,Ruggiero RP

更新日期：2019-01-01 00:00:00

abstract：:The relationship between the apparently random chromosomal changes found in aneuploidy and the genetic instability driving the progression of cancer is not clear. We report a test of the hypothesis that aneuploid chromosomal abnormalities might be selected to preserve cell-survival genes during loss of heterozygosity ...

journal_title：Cytogenetic and genome research

authors： Nestor AL,Hollopeter SL,Matsui SI,Allison D

更新日期：2007-01-01 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

authors： Wang CJ,Chen CC

更新日期：2005-01-01 00:00:00

abstract：:A 5-year-old river buffalo cow underwent cytogenetic investigation since it had only one male offspring, apparently with normal body constitution, which died one month after birth. The female carrier had normal body conformation and internal sex adducts, as revealed by rectal palpation performed by a specialist veteri...

journal_title：Cytogenetic and genome research

authors： Di Meo GP,Perucatti A,Genualdo V,Iannuzzi A,Sarubbi F,Caputi-Jambrenghi A,Incarnato D,Peretti V,Vonghia G,Iannuzzi L

更新日期：2011-01-01 00:00:00

abstract：:All dogroses (Rosa sect. Caninae) are characterized by the peculiar canina meiosis in which genetic material is unevenly distributed between female and male gametes. The pan-canina rDNA family (termed beta) appears to be conserved in all dogroses analyzed so far. Here, we have studied rDNAs in experimental hybrids obt...

journal_title：Cytogenetic and genome research

authors： Crhak Khaitova L,Werlemark G,Kovarikova A,Nybom H,Kovarik A

更新日期：2014-01-01 00:00:00

abstract：:Apart from a personal tragedy, could Down syndrome, cancer and infertility possibly have something in common? Are there links between a syndrome with physical and mental problems, a tumor growing out of control and the incapability to reproduce? These questions can be answered if we look at the biological functions of...

journal_title：Cytogenetic and genome research

authors： Barbero JL

更新日期：2011-01-01 00:00:00

abstract：:Deletions in the short arm of chromosome 12 are the rarest subtelomeric imbalances. Less than 20 patients have been reported to date, and their microdeletions were identified either by FISH or array-CGH without SNP data. Here, we report a patient with a 12p13.32pter mosaic deletion detected by chromosome microarray an...

journal_title：Cytogenetic and genome research

authors： Faria RS,de Oliveira CP,da Costa MM,da S Rosa MT,Córdoba MS,Pic-Taylor A,Ferrari I,de Oliveira SF,Mazzeu JF

更新日期：2016-01-01 00:00:00

abstract：:Peroxisomes are cell organelles that perform multiple functions in the metabolism of lipids and of reactive oxygen species. They are present in most eukaryotic cells. However, they are believed to be absent in spermatozoa and they have never been described in male germ cells. We have used the immortalized germ cell li...

journal_title：Cytogenetic and genome research

authors： Lüers GH,Schad A,Fahimi HD,Völkl A,Seitz J

更新日期：2003-01-01 00:00:00

abstract：:XIST encodes a functional RNA that is expressed exclusively from the inactive X in female mammals and is required for the silencing of most of the genes on the chromosome. XIST transcripts remain in the nucleus, and their specific localization to the inactive X is important for silencing; however, it is not known how ...

journal_title：Cytogenetic and genome research

authors： Chow JC,Hall LL,Lawrence JB,Brown CJ

更新日期：2002-01-01 00:00:00

abstract：:Both cattle (Bos taurus) and sheep (Ovis aries) belong to the Bovidae family but to different subfamilies, Bovinae and Caprinae, respectively. From a chromosomal point of view, apart from the already known centric fusions (that occurred during the evolutionary process in the Bovidae family) and the small differences i...

journal_title：Cytogenetic and genome research

authors： De Lorenzi L,Pauciullo A,Iannuzzi A,Parma P

更新日期：2020-01-01 00:00:00

abstract：:The 'centromere-from-telomere' hypothesis proposed by Villasante et al. [2007a] aims to explain the evolutionary origin of the eukaryotic chromosome. The hypothesis is based on the notion that the process of eukaryogenesis was initiated by adaptive responses of the symbiont eubacterium and its archaeal host to their n...

journal_title：Cytogenetic and genome research

authors： Slijepcevic P

更新日期：2016-01-01 00:00:00

abstract：:Transposable elements are disproportionately abundant in the heterochromatin of Drosophila melanogaster. Among the forces contributing to this bias in genomic distribution, fixation due to positive selection has been put forward. We have studied I-related elements which are located in pericentromeric heterochromatin a...

journal_title：Cytogenetic and genome research

authors： Junakovic N,Fortunati D,Soriano S

更新日期：2005-01-01 00:00:00

abstract：:During this study, we analysed the pericentric inversion that distinguishes human chromosome 12 (HSA12) from the homologous chimpanzee chromosome (PTR10). Two large chimpanzee-specific duplications of 86 and 23 kb were observed in the breakpoint regions, which most probably occurred associated with the inversion. The ...

journal_title：Cytogenetic and genome research

authors： Kehrer-Sawatzki H,Sandig CA,Goidts V,Hameister H

更新日期：2005-01-01 00:00:00

abstract：:An important aspect of genome reprogramming is the establishment and maintenance of gamete-specific DNA methylation patterns that distinguish the parental alleles of imprinted genes. Disrupting the accurate transmission of genomic imprints by interfering with these methylation patterns causes severe defects in fetal g...

journal_title：Cytogenetic and genome research

authors： Paoloni-Giacobino A,Chaillet JR

更新日期：2006-01-01 00:00:00

abstract：:Holoprosencephaly (HPE) is the most common congenital malformation of the brain and face in humans. In this study we report the analysis of SIL (Sumacr;CL iumacr;nterrupting lumacr;ocus) as a candidate gene for HPE. Fluorescent in situ hybridization (FISH) analysis using a BAC 246e16 confirmed the assignment of SIL to...

journal_title：Cytogenetic and genome research

authors： Karkera JD,Izraeli S,Roessler E,Dutra A,Kirsch I,Muenke M

更新日期：2002-01-01 00:00:00

abstract：:Previous genetic mapping identified three linkage groups (M1, M18 and M26) in the turkey corresponding to chicken chromosome 1 (GGA1). This is inconsistent with previously described chromosomal differences between these species. FISH analysis of BAC clones corresponding to microsatellite markers from each of the three...

journal_title：Cytogenetic and genome research

authors： Reed KM,Sullivan LR,Foster LK,Chaves LD,Ponce de León FA

更新日期：2006-01-01 00:00:00

abstract：:Uniparental chromosome elimination occurs in several interspecific hybrids of plants. We studied the mechanism underlying selective elimination of the paternal chromosomes during the development of Hordeum vulgare x H. bulbosum hybrid embryos that is restricted to an early stage of development. In almost all embryos m...

journal_title：Cytogenetic and genome research

authors： Gernand D,Rutten T,Pickering R,Houben A

更新日期：2006-01-01 00:00:00

abstract：:It is well known that TP53 may mediate apoptosis triggered by anticancer drugs. However, accumulating evidence indicates that TP53 may be inactivated by mutations and/or deletions in about 50% of human cancers and, as such, may lead to pronounced resistance to therapeutic agents. Thus, the development of new approache...

journal_title：Cytogenetic and genome research

authors： Wang J,Wang XF,Zhang LG,Xie SY,Li ZL,Li YJ,Li HH,Jiao F

更新日期：2009-01-01 00:00:00

abstract：:Normal diploid somatic mammalian cell division generates 2 daughter cells as a result of a strict and well-controlled mitotic process. However, some defects during the progression of that process could generate an unbalanced distribution of chromosomes, aneuploidy and eventually, a malignant phenotype. Previous observ...

journal_title：Cytogenetic and genome research

authors： Dutra A,Pak E,Wincovitch S,John K,Poirier MC,Olivero OA

更新日期：2010-01-01 00:00:00

abstract：:An experimental approach using monoclonal anti-5-methylcytosine (5-MeC) antibodies and indirect immunofluorescence was elaborated for detecting 5-MeC-rich chromosome regions in anuran chromosomes. This technique was applied to mitotic metaphases of 6 neotropical frog species belonging to 6 genera and 4 families. The h...

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2016-01-01 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

authors： Lloveras E,Canellas A,Barranco L,Alves C,Vila-Real M,Ventura V,Fernández D,Mendez B,Piqué M,Reis-Lima M,de la Iglesia C,Palau N,Costa M,Yeste D,Auge M,Perez C

更新日期：2019-01-01 00:00:00