Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes.

abstract：:A physical chromosome mapping of the H1 histone and 5S and 18S ribosomal RNA (rRNA) genes was performed in interspecific hybrids of Pseudoplatystoma corruscans and P. reticulatum. The results showed that 5S rRNA clusters were located in the terminal region of 2 chromosomes. H1 histone and 18S ribosomal genes were co-l...

journal_title：Cytogenetic and genome research

authors： Hashimoto DT,Ferguson-Smith MA,Rens W,Prado FD,Foresti F,Porto-Foresti F

更新日期：2013-01-01 00:00:00

abstract：:Fanconi anemia (FA) cells are generally hypersensitive to DNA cross-linking agents, implying that mutations in the different FANC genes cause a similar DNA repair defect(s). By using a customized cDNA microarray chip for DNA repair- and cell cycle-associated genes, we identified three genes, cathepsin B (CTSB), glutar...

journal_title：Cytogenetic and genome research

authors： Galetzka D,Weis E,Rittner G,Schindler D,Haaf T

更新日期：2008-01-01 00:00:00

abstract：:The most prevalent structural variations in the human genome are copy number variations (CNVs), which appear predominantly in the subtelomeric regions. Variable sizes of 4p/4q CNVs have been associated with several different psychiatric findings and developmental disability (DD). We analyzed 105 patients with congenit...

journal_title：Cytogenetic and genome research

authors： Novo-Filho GM,Montenegro MM,Zanardo ÉA,Dutra RL,Dias AT,Piazzon FB,Costa TV,Nascimento AM,Honjo RS,Kim CA,Kulikowski LD

更新日期：2016-01-01 00:00:00

abstract：:The purpose of this study was to identify a technique that allows for comprehensive chromosome screening (CCS) of individual cells within human blastocysts along with the approximation of their location in the trophectoderm relative to the inner cell mass (ICM). This proof-of-concept study will allow for a greater und...

journal_title：Cytogenetic and genome research

authors： Taylor TH,Griffin DK,Katz SL,Crain JL,Johnson L,Gitlin S

更新日期：2016-01-01 00:00:00

abstract：:Retroelements (REs) actively reshape genomes through genomic rearrangements, creation of new genes and modulation of the regulatory machinery of existing genes, thus introducing genomic novelties which potentially may be subject to natural selection. Thousands of RE integrations, presumably distinguishing the human an...

journal_title：Cytogenetic and genome research

authors： Buzdin A,Vinogradova T,Lebedev Y,Sverdlov E

更新日期：2005-01-01 00:00:00

abstract：:Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation betwe...

journal_title：Cytogenetic and genome research

authors： Bellucco FT,Favilla BP,Perrone E,Melaragno MI

更新日期：2020-12-14 00:00:00

abstract：:Turtle karyotypes are highly conserved compared to other vertebrates; yet, variation in diploid number (2n = 26-68) reflects profound genomic reorganization, which correlates with evolutionary turnovers in sex determination. We evaluate the published literature and newly collected comparative cytogenetic data (G- and ...

journal_title：Cytogenetic and genome research

authors： Montiel EE,Badenhorst D,Lee LS,Literman R,Trifonov V,Valenzuela N

更新日期：2016-01-01 00:00:00

abstract：:Cytogenetic investigations performed in eight Portuguese cattle breeds revealed the presence of rob(1;29) in both heterozygous and homozygous conditions in all, and five breeds, respectively, with variable percentages of carriers as follows: 41.0% in Arouquesa, 69.9% in Barrosa, 39.4% in Maronesa, 2.8% in Mirandesa, 8...

journal_title：Cytogenetic and genome research

authors： Iannuzzi A,Di Meo GP,Caputi Jambrenghi A,Vonghia G,Iannuzzi L,Rangel-Figueiredo T

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

authors： Seibold-Torres C,Owens E,Chowdhary R,Ferguson-Smith MA,Tizard I,Raudsepp T

更新日期：2015-01-01 00:00:00

abstract：:Gross chromosomal rearrangements and aneuploidy are among the most common somatic genomic abnormalities that occur during cancer initiation and progression, in particular in human solid tumor carcinogenesis. The loss of large chromosomal regions as consequence of gross rearrangements (e.g. deletions, monosomies, unbal...

journal_title：Cytogenetic and genome research

authors： Ludes-Meyers JH,Bednarek AK,Popescu NC,Bedford M,Aldaz CM

更新日期：2003-01-01 00:00:00

abstract：:Oligonucleotide array comparative genomic hybridization (aCGH) was applied on fifteen gastric cancer (GCA) samples to reveal information of DNA copy number changes at an exon-level resolution. Twelve of the samples represented the intestinal (IGCA) and three the diffuse (DGCA) type of GCA. The samples had previously b...

journal_title：Cytogenetic and genome research

authors： Vauhkonen H,Vauhkonen M,Sipponen P,Knuutila S

更新日期：2007-01-01 00:00:00

abstract：:Genomic imprinting has a special role in placental biology. Imprinted genes are often strongly expressed in the placenta, and the allelic expression bias due to imprinting is sometimes stronger in this extraembryonic organ than in the embryo and adult. Mutations, epimutations, and uniparental disomies affecting imprin...

journal_title：Cytogenetic and genome research

authors： Tycko B

更新日期：2006-01-01 00:00:00

abstract：:B chromosomes are now known in eight Brazilian rodent species: Akodon montensis, Holochilus brasiliensis, Nectomys rattus, N. squamipes, Oligoryzomys flavescens, Oryzomys angouya, Proechimys sp. 2 and Trinomys iheringi. Typically these chromosomes are heterogeneous relative to size, morphology, banding patterns, prese...

journal_title：Cytogenetic and genome research

authors： Silva MJ,Yonenaga-Yassuda Y

更新日期：2004-01-01 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

authors： Bustamante FO,Aliyeva-Schnorr L,Fuchs J,Beier S,Houben A

更新日期：2017-01-01 00:00:00

abstract：:Hordeum chilense Roem. et Schult. has a number of characteristics interesting for breeding: high crossability with other Triticeae, resistance to biotic and abiotic stresses and high variability for quality traits such as endosperm storage proteins or carotenoid content. xTritordeum, the amphiploids between H. chilens...

journal_title：Cytogenetic and genome research

authors： Martín A,Cabrera A

更新日期：2005-01-01 00:00:00

abstract：:A derivative X chromosome formed by translocation involving an X chromosome and a chromosome 18 in a Klinefelter syndrome (KS) patient with a 47,XXY karyotype has not been reported before. In this study, we present the clinical and molecular cytogenetic characteristics. The patient presented with small testes and azoo...

journal_title：Cytogenetic and genome research

authors： Liang J,Zhang Y,Wang R,Liang Z,Yue J,Liu R

更新日期：2015-01-01 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

authors： Iliakis G,Wang H,Perrault AR,Boecker W,Rosidi B,Windhofer F,Wu W,Guan J,Terzoudi G,Pantelias G

更新日期：2004-01-01 00:00:00

abstract：:The suborder Serpentes is divided into 2 infraorders, Scolecophidia and Alethinophidia, which diverged at an early stage of snake diversification. In this study, we examined karyotypes of 4 scolecophidian species (Letheobia simonii, Xerotyphlops vermicularis, Indotyphlops braminus, and Myriopholis macrorhyncha) and pe...

journal_title：Cytogenetic and genome research

authors： Matsubara K,Kumazawa Y,Ota H,Nishida C,Matsuda Y

更新日期：2019-01-01 00:00:00

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：:Among birds, species with the ZZ/ZW sex determination system generally show significant differences in morphology and size between the Z and W chromosomes (with the W usually being smaller than the Z). In the present study, we report for the first time the karyotype of the spot-flanked gallinule (Gallinula melanops) b...

journal_title：Cytogenetic and genome research

authors： Gunski RJ,Kretschmer R,Santos de Souza M,de Oliveira Furo I,Barcellos SA,Costa AL,Cioffi MB,de Oliveira EHC,Del Valle Garnero A

更新日期：2019-01-01 00:00:00

abstract：:A reduction in recombination in the pseudoautosomal region is associated with an increased frequency of aneuploid 24,XY human sperm. Similarly, individuals with paternally derived Klinefelter syndrome (47,XXY) also have a paucity of recombination in the chromosomes that have undergone nondisjunction. Meiotic studies u...

journal_title：Cytogenetic and genome research

authors： Martin RH

更新日期：2005-01-01 00:00:00

abstract：:Translocations involving chromosomal region 19q13 are a frequent finding in follicular adenomas of the thyroid and might represent the most frequent type of structural aberration in human epithelial tumors. By positional cloning, a putative candidate gene, ZNF331 (formerly RITA) located close to the breakpoint was ide...

journal_title：Cytogenetic and genome research

authors： Meiboom M,Murua Escobar H,Pentimalli F,Fusco A,Belge G,Bullerdiek J

更新日期：2003-01-01 00:00:00

abstract：:The Mx gene was originally found in laboratory mice in an infection experiment using influenza virus (Lindermann, 1962). Almost all of the mouse strains in that experiment died from the infection, and only the A2G strain had resistance to the virus. This resistant character was shown to be inherited as a single autoso...

journal_title：Cytogenetic and genome research

authors： Watanabe T

更新日期：2007-01-01 00:00:00

abstract：:The chromosomes and banding patterns of Steindachneridion sp., a large catfish (Pimelodidae), endemic to the Iguaçu River, Brazil, were analyzed using conventional (C-, G-banding) and restriction enzyme banding methods. The same diploid number (2n = 56) as in other members of the genus and the family was found but the...

journal_title：Cytogenetic and genome research

authors： Swarça AC,Fenocchio AS,Cestari MM,Bertollo LA,Dias AL

更新日期：2006-01-01 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：:Spectral karyotyping (SKY) was used to assess the chromosomal constitution of embryos generated by nuclear transfer (NT) of neuronal nuclei (N-NT) or cumulus cell nuclei (C-NT) into oocytes and of their embryonic stem cell derivatives (ntES cells). We detected chromosomal changes during the first mitotic cleavage and ...

journal_title：Cytogenetic and genome research

authors： Osada T,Kakazu N,Watanabe M,Yamane H,Yagi T

更新日期：2009-01-01 00:00:00

abstract：:Analysis of the horse genome is proceeding at a rapid pace. Within a short span of 6-7 years, approximately 1,500 markers have been mapped in horse, of which at least half are genes/ESTs. Health, performance and phenotypic characteristic are of major concern/interest to horse breeders and owners. Current efforts to an...

journal_title：Cytogenetic and genome research

authors： Chowdhary BP,Bailey E

更新日期：2003-01-01 00:00:00

abstract：:Aegilops mutica Boiss., a diploid species (2n = 2x = 14, TT), has been rarely studied before. In this research, a hexaploid wheat (cv. Chinese Spring)-Ae. mutica partial amphiploid and a wheat-Ae. mutica addition line were characterized by chromosome karyotyping, FISH using oligonucleotides Oligo-pTa535-1, Oligo-pSc11...

journal_title：Cytogenetic and genome research

authors： Liu C,Li GR,Gong WP,Li GY,Han R,Li HS,Song JM,Liu AF,Cao XY,Chu XS,Yang ZJ,Huang CY,Zhao ZD,Liu JJ

更新日期：2015-01-01 00:00:00

abstract：:The epigenome is thought to mediate between genes and the environment, particularly in response to adverse life experiences. Similar to other psychiatric diseases, the suicide liability of an individual appears to be influenced by many genetic factors of small effect size as well as by environmental stressors. To iden...

journal_title：Cytogenetic and genome research

authors： Schneider E,El Hajj N,Müller F,Navarro B,Haaf T

更新日期：2015-01-01 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