abstract：: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 hom...

journal_title：Cytogenetic and genome research

authors： Höckner M,Spreiz A,Frühmesser A,Tzschach A,Dufke A,Rittinger O,Kalscheuer V,Singer S,Erdel M,Fauth C,Grossmann V,Utermann G,Zschocke J,Kotzot D

更新日期：2012-01-01 00:00:00

abstract：:Unbalanced whole-arm translocations (WATs) of the long arm of chromosome 1, resulting in complete trisomy 1q, are chromosomal abnormalities detectable in both solid tumors and hematologic neoplasms. Among the WATs of 1q to acrocentric chromosomes, a few patients with der(1;15) described as a dicentric chromosome have ...

journal_title：Cytogenetic and genome research

authors： Fogu G,Campus PM,Cambosu F,Moro MA,Sanna R,Fozza C,Nieddu RM,Longinotti M,Montella A

更新日期：2012-01-01 00:00:00

abstract：:Proximal 6q deletions have a milder phenotype than middle and distal 6q deletions. We describe 2 patients with non-overlapping deletions of about 15 and 19 Mb, respectively, which subdivide the proximal 6q region into 2 parts. The aberrations were identified using karyotyping and analysed using mBAND and array CGH. Th...

journal_title：Cytogenetic and genome research

authors： Vlckova M,Trkova M,Zemanova Z,Hancarova M,Novotna D,Raskova D,Puchmajerova A,Drabova J,Zmitkova Z,Tan Y,Sedlacek Z

更新日期：2012-01-01 00:00:00

abstract：:Coamplification of multiple segments of chromosome 2, including an MYCN-bearing segment, was examined in 2 cancer cell lines, NCI-H69 (lung cancer) and IMR-32 (neuroblastoma). High-resolution array-CGH analysis revealed 13 and 6 highly amplified segments located at different sites in chromosome 2 in NCI-H69 and IMR-32...

journal_title：Cytogenetic and genome research

authors： Kitada K,Aida S,Aikawa S

更新日期：2012-01-01 00:00:00

abstract：:The catarrhine primates were the first group of species studied with comparative molecular cytogenetics. Many of the fundamental techniques and principles of analysis were initially applied to comparisons in these primates, including interspecific chromosome painting, reciprocal chromosome painting and the extensive u...

journal_title：Cytogenetic and genome research

authors： Stanyon R,Rocchi M,Bigoni F,Archidiacono N

更新日期：2012-01-01 00:00:00

abstract：:We describe 7 cases of abnormal karyotypes involving chromosomes Y and 15 in Ethiopian Beta Israel patients: 46,XX, der(15)t(Y;15)(q12;p12) and 46,XY,der(15)t(Y;15)(q12;p12). Six cases were incidentally found in amniocentesis performed for various indications; the indication for karyotyping in 1 case was recurrent abo...

journal_title：Cytogenetic and genome research

authors： Chen-Shtoyerman R,Josefsberg Ben-Yehoshua S,Nissani R,Rosensaft J,Appelman Z

更新日期：2012-01-01 00:00:00

abstract：:The human brain is distinguished by its remarkable size, high energy consumption, and cognitive abilities compared to all other mammals and non-human primates. However, little is known about what has accelerated brain evolution in the human lineage. One possible explanation is that the appearance of advanced communica...

journal_title：Cytogenetic and genome research

authors： Schneider E,Jensen LR,Farcas R,Kondova I,Bontrop RE,Navarro B,Fuchs E,Kuss AW,Haaf T

更新日期：2012-01-01 00:00:00

abstract：:Among various causes responsible for infertility, it has been admitted for a long time that male infertility can be due to impaired spermatogenesis and/or balanced structural chromosomal abnormalities. Sperm DNA fragmentation is also considered as another cause of infertility. Most of the studies on male infertility h...

journal_title：Cytogenetic and genome research

authors： Perrin A,Basinko A,Douet-Guilbert N,Gueganic N,Le Bris MJ,Amice V,De Braekeleer M,Morel F

更新日期：2011-01-01 00:00:00

abstract：:This paper reports on the chromosomal location of 18S rRNA, 5S rRNA and H3 histone multigene families in 4 species of a relatively ancient and diversified group of grasshoppers belonging to the family Proscopiidae. The 5S rRNA and H3 histone genes were highly conserved in the number of sites and chromosomal position i...

journal_title：Cytogenetic and genome research

authors： Cabral-de-Mello DC,Martins C,Souza MJ,Moura RC

更新日期：2011-01-01 00:00:00

abstract：:Physical mapping of 5S rDNA in 2 species of knifefishes, Gymnotuspantanal and G. paraguensis (Gymnotiformes), was performed using fluorescence in situ hybridization with a 5S rDNA probe. The 5S rDNA PCR product from the genomes of both species was also sequenced and aligned to determine non-transcribed spacer sequence...

journal_title：Cytogenetic and genome research

authors： da Silva M,Matoso DA,Vicari MR,de Almeida MC,Margarido VP,Artoni RF

更新日期：2011-01-01 00:00:00

abstract：:We analyzed the DNA amount in X and B chromosomes of 2 XX/X0 grasshopper species (Eyprepocnemis plorans and Locusta migratoria), by means of Feulgen image analysis densitometry (FIAD), using previous estimates in L. migratoria as standard (5.89 pg). We first analyzed spermatids of 0B males and found a bimodal distribu...

journal_title：Cytogenetic and genome research

authors： Ruiz-Ruano FJ,Ruiz-Estévez M,Rodríguez-Pérez J,López-Pino JL,Cabrero J,Camacho JP

更新日期：2011-01-01 00:00:00

abstract：:Fat accumulation is a polygenic trait which has a significant impact on human health and animal production. Obesity is also an increasingly serious problem in dog breeding. The FTO and INSIG2 are considered as candidate genes associated with predisposition for human obesity. In this report we present a comparative gen...

journal_title：Cytogenetic and genome research

authors： Grzes M,Szczerbal I,Fijak-Nowak H,Szydlowski M,Switonski M

更新日期：2011-01-01 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

authors： Pacchierotti F,Eichenlaub-Ritter U

更新日期：2011-01-01 00:00:00

abstract：:An interstitial constriction located on the long arm of rye chromosome 5R (5RL) shows neocentromeric activity at meiosis. In some meiocytes this region is strongly stretched orienting with the true centromere to opposite poles at metaphase I, and keeping sister chromatid cohesion at anaphase I. We found previously tha...

journal_title：Cytogenetic and genome research

authors： Cuacos M,González-García M,González-Sánchez M,Puertas MJ,Vega JM

更新日期：2011-01-01 00:00:00

abstract：:Stripe rust (Puccinia striiformis tritici (Pst)) is one of the most destructive diseases of wheat in the world. Exploiting and utilizing stripe rust resistance genes of wild species has become an essential strategy for resistance breeding. Psathyrostachyshuashanica Keng ex Kuo is a wild species in Triticeae that has b...

journal_title：Cytogenetic and genome research

authors： Wang Y,Yu K,Xie Q,Kang H,Lin L,Fan X,Sha L,Zhang H,Zhou Y

更新日期：2011-01-01 00:00:00

abstract：:The discovery of complex structural variations that exist within individual genomes has prompted a need to visualize chromosomes at a higher resolution than previously possible. To address this concern, we established a robust, high-resolution fluorescence in situ hybridization (FISH) method that utilizes probes deriv...

journal_title：Cytogenetic and genome research

authors： Yamada NA,Rector LS,Tsang P,Carr E,Scheffer A,Sederberg MC,Aston ME,Ach RA,Tsalenko A,Sampas N,Peter B,Bruhn L,Brothman AR

更新日期：2011-01-01 00:00:00

abstract：:Correct imprinting is crucial for normal fetal and placental development in mammals. Experimental evidence in animal models and epidemiological studies in humans suggest that assisted reproductive technologies (ARTs) can interfere with imprinted gene regulation in gametogenesis and early embryogenesis. Bos taurus is a...

journal_title：Cytogenetic and genome research

authors： Hansmann T,Heinzmann J,Wrenzycki C,Zechner U,Niemann H,Haaf T

更新日期：2011-01-01 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：:Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication...

journal_title：Cytogenetic and genome research

authors： Mayo S,Monfort S,Roselló M,Orellana C,Oltra S,Armstrong J,Català V,Martínez F

更新日期：2011-01-01 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

authors： Almeida C,Pedrosa-Harand A

更新日期：2011-01-01 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：:Klinefelter's syndrome (KS) is the most common sex chromosome abnormality identified in human males. This syndrome is generally associated with infertility. Men with KS may have a 47,XXY or a 46,XY/47,XXY karyotype. Studies carried out in humans and mice suggest that only XY cells are able to enter and complete meiosi...

journal_title：Cytogenetic and genome research

authors： Pinton A,Barasc H,Raymond Letron I,Bordedebat M,Mary N,Massip K,Bonnet N,Calgaro A,Dudez AM,Feve K,Riquet J,Yerle M,Ducos A

更新日期：2011-01-01 00:00:00

abstract：:This review summarizes older as well as recent data about the model dioecious plant Silene latifolia. This plant has been the subject of more than one hundred years of research efforts and its most conspicuous property is huge and well differentiated heteromorphic sex chromosomes, XX in females and XY in males. Due to...

journal_title：Cytogenetic and genome research

authors： Kejnovsky E,Vyskot B

更新日期：2010-07-01 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

authors： Chelysheva L,Grandont L,Vrielynck N,le Guin S,Mercier R,Grelon M

更新日期：2010-07-01 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

authors： Henson BJ,Gollin SM

更新日期：2010-06-01 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

authors： Rao PN,Li W,Vissers LE,Veltman JA,Ophoff RA

更新日期：2010-01-01 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：:The DDX4/VASA gene plays an important role in germ cell development in animals. We cloned and characterized a marsupial DDX4/VASA homolog (TvDDX4, 2,769 bps) from the possum and examined its expression in adult tissues at mRNA and protein levels. The isolated cDNA had a deduced 704 amino acid residues with significant...

journal_title：Cytogenetic and genome research

authors： Cui S,Nanayakkara K,Selwood L

更新日期：2009-01-01 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

authors： Riggs PK,Rønne M

更新日期：2009-01-01 00:00:00

abstract：:The occurrence of interchromosomal effects (ICE) in reciprocal translocation carriers still remains contradictory in the human literature. We used the pig as an animal model to investigate whether the structure of the reciprocal translocations as well as the size and/or type of the chromosomes not involved in the rear...

journal_title：Cytogenetic and genome research

authors： Bonnet-Garnier A,Guardia S,Pinton A,Ducos A,Yerle M

更新日期：2009-01-01 00:00:00

abstract：:The lizard genus Gekko consists of over 30 species distributed in Asia and Oceania. From the insular region of East Asia including Japan and Taiwan, 9 species (G. hokouensis, G. japonicus, G. shibatai, G. tawaensis, G. vertebralis,G. yakuensis, and 3 undescribed species) are currently recognized. We made karyological ...

journal_title：Cytogenetic and genome research

authors： Shibaike Y,Takahashi Y,Arikura I,Iiizumi R,Kitakawa S,Sakai M,Imaoka C,Shiro H,Tanaka H,Akakubo N,Nakano M,Watanabe M,Ohne K,Kubota S,Kohno S,Ota H

更新日期：2009-01-01 00:00:00

abstract：:Approximately 15 patients with partial trisomy 9p involving de novo duplications have been previously described. Here, we present clinical, cytogenetic, FISH and aCGH findings in a patient with a de novo complex rearrangement in the short arm of chromosome 9 involving an inverted duplication at 9p24-->p21.3 and a dele...

journal_title：Cytogenetic and genome research

authors： Hulick PJ,Noonan KM,Kulkarni S,Donovan DJ,Listewnik M,Ihm C,Stoler JM,Weremowicz S

更新日期：2009-01-01 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：:Twelve weeks after repeated spontaneous mating between a Bentheimer Landschaf ram and a West African dwarf doe was observed, the doe aborted a dead fetus. The aim of this study was to verify the parentage and the species of the supposed parents and the hybrid status of the fetus, using cytogenetic and molecular geneti...

journal_title：Cytogenetic and genome research

authors： Lühken G,Wagner HW,Seichter D,Hecht W,Erhardt G

更新日期：2009-01-01 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

authors： Petrović V,Pérez-García C,Pasantes JJ,Satović E,Prats E,Plohl M

更新日期：2009-01-01 00:00:00

abstract：:The formation of heterochromatin begins in the differentiating cells. The aim of this work was to study changes of satellite DNA distribution, transcriptional activity and interaction with certain proteins in mouse embryonic stem cells after induction with retinoic acid. We found that pericentromeric satellites entere...

journal_title：Cytogenetic and genome research

authors： Enukashvily NI,Malashicheva AB,Waisertreiger IS

更新日期：2009-01-01 00:00:00

abstract：:A diploid-like pairing system prevents meiotic irregularities and improves the efficiency of gamete production in allopolyploid species. While the nature of the system is known in some polyploid crops including wheat, little is known about the control of chromosome pairing in polyploid fescues (Festuca spp.). In this ...

journal_title：Cytogenetic and genome research

authors： Kopecký D,Bartos J,Zwierzykowski Z,Dolezel J

更新日期：2009-01-01 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：: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

authors： Krepischi-Santos AC,Rajan D,Temple IK,Shrubb V,Crolla JA,Huang S,Beal S,Otto PA,Carter NP,Vianna-Morgante AM,Rosenberg C

更新日期：2009-01-01 00:00:00

abstract：:A hitherto undescribed satellite DNA family (AvaII satDNA) has been isolated and characterised in Eumeces schneideri, a squamate reptile belonging to the family Scincidae. AvaII satDNA is characterised by a monomer length of 208 bp, a GC content of 59% and exhibits a certain degree of CpG methylation. FISH experiments...

journal_title：Cytogenetic and genome research

authors： Giovannotti M,Nisi Cerioni P,Caputo V,Olmo E

更新日期：2009-01-01 00:00:00