Meiotic studies of a 38,XY/39,XXY mosaic boar.

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：: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：: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

authors： del Priore L,Pigozzi MI

更新日期：2015-01-01 00:00:00

abstract：:To investigate the karyotypic relationships between Chinese muntjac (Muntiacus reevesi), forest musk deer (Moschus berezovskii) and gayal (Bos frontalis), a complete set of Chinese muntjac chromosome-specific painting probes has been assigned to G-banded chromosomes of these three species. Sixteen autosomal probes (i....

journal_title：Cytogenetic and genome research

authors： Chi J,Fu B,Nie W,Wang J,Graphodatsky AS,Yang F

更新日期：2005-01-01 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：: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：:Scanning electron microscopy (SEM) proves to be an appropriate technique for imaging chromatin organization in meiosis I and II of rye (Secale cereale) down to a resolution of a few nanometers. It could be shown for the first time that organization of basic structural elements (coiled and parallel fibers, chromomeres)...

journal_title：Cytogenetic and genome research

authors： Zoller JF,Hohmann U,Herrmann RG,Wanner G

更新日期：2004-01-01 00:00:00

abstract：:Mutations/deletions of the IMMP2L gene have been associated with different cognitive/behavioral disturbances, including autism spectrum disorders (ASD). The penetrance of these defects is not complete since they often are inherited from a healthy parent. Using array-CGH in a cohort of 37 ASD patients, we found 2 subje...

journal_title：Cytogenetic and genome research

authors： Baldan F,Gnan C,Franzoni A,Ferino L,Allegri L,Passon N,Damante G

更新日期：2018-01-01 00:00:00

abstract：:We have investigated the karyotype relationships of two oriental voles, i.e. the Yulong vole (Eothenomys proditor, 2n = 32) and the large oriental vole (Eothenomys miletus, 2n = 56) as well as the Clarke's vole (Microtus clarkei, 2n = 52), by a combined approach of cross-species chromosome painting and high-resolution...

journal_title：Cytogenetic and genome research

authors： Li T,Wang J,Su W,Yang F

更新日期：2006-01-01 00:00:00

abstract：:Large pericentric inversions in chromosome 10 are rare chromosomal aberrations with only few cases of familial inheritance. Such chromosomal rearrangements may lead to production of unbalanced gametes. As a result of a recombination event in the inversion loop, 2 recombinants with duplicated and deficient chromosome s...

journal_title：Cytogenetic and genome research

authors： Ciuladaite Z,Preiksaitiene E,Utkus A,Kučinskas V

更新日期：2014-01-01 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：:Bovine embryos are now routinely used in agricultural systems as a means of disseminating superior genetics worldwide, ultimately with the aim of feeding an ever-growing population. Further investigations, common for human IVF embryos, thus have priority to improve cattle IVF, as has screening for aneuploidy (abnormal...

journal_title：Cytogenetic and genome research

authors： Hornak M,Kubicek D,Broz P,Hulinska P,Hanzalova K,Griffin D,Machatkova M,Rubes J

更新日期：2016-01-01 00:00:00

abstract：:A 17-year-old girl presented with a distinct phenotype mainly featuring craniofacial dysmorphism, including a disproportioned large, round, elongated face; hypertelorism; deep-set eyes with short palpebral fissures; obesity (BMI 37), and a neuropsychiatric disorder with high-functioning autism. Postnatal conventional ...

journal_title：Cytogenetic and genome research

authors： Camerota L,Pitzianti M,Postorivo D,Nardone AM,Ligas C,Moretti C,Pasini A,Brancati F

更新日期：2017-01-01 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：: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

authors： Ronzoni L,Novelli A,Brisighelli G,Peron A,Triulzi F,Bianchi V,Leva E,Bedeschi MF

更新日期：2016-01-01 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：:A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was ...

journal_title：Cytogenetic and genome research

authors： Papoulidis I,Paspaliaris V,Papageorgiou E,Siomou E,Dagklis T,Sotiriou S,Thomaidis L,Manolakos E

更新日期：2015-01-01 00:00:00

abstract：:Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. Clinically, the distinguishing feature is early and prominent action tremor with variability in other signs. Pathologically, brain M...

journal_title：Cytogenetic and genome research

authors： Holmes SE,O'Hearn E,Margolis RL

更新日期：2003-01-01 00:00:00

abstract：:New data are presented on the sex chromosomes of the fish species Eigenmannia virescens (Gymnotiformes, Sternopygidae). A new finding, involving the occurrence of ZZ/ZW sex chromosomes, is described in specimens sampled from the São Francisco and Amazon river basins in Brazil. All individuals had a chromosome number o...

journal_title：Cytogenetic and genome research

authors： de Almeida-Toledo LF,Daniel-Silva MF,Moysés CB,Fonteles SB,Lopes CE,Akama A,Foresti F

更新日期：2002-01-01 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：:Mouse distal chromosome 2 was one of the earliest described imprinting regions. Maternal and paternal inheritance of the region is associated with opposite phenotypes affecting growth, development and behaviour. Mis-expression of proteins determined by the imprinted Gnas locus can account for the phenotypes. The impri...

journal_title：Cytogenetic and genome research

authors： Peters J,Holmes R,Monk D,Beechey CV,Moore GE,Williamson CM

更新日期：2006-01-01 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：: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：: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

authors： Demidov D,Schubert V,Kumke K,Weiss O,Karimi-Ashtiyani R,Buttlar J,Heckmann S,Wanner G,Dong Q,Han F,Houben A

更新日期：2014-01-01 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：: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 male specific expressed gene families CDY and DAZ are known to be repetitively clustered in the Y-specific region of the human Y chromosome. Comparative FISH-mapping of DNA clones specific for CDY and DAZ resulted in a Y-specific but diverse signal pattern within the non-recombining region of the Y-chromosom...

journal_title：Cytogenetic and genome research

authors： Wimmer R,Kühl H,Röttger S,Schempp W

更新日期：2002-01-01 00:00:00

abstract：:Huntington's disease (HD) is a genetically dominant neurodegenerative condition caused by an unique mutation in the disease gene huntingtin. Although the Huntington protein (Htt) is ubiquitously expressed, expansion of the polyglutamine tract in Htt leads to the progressive loss of specific neuronal subpopulations in ...

journal_title：Cytogenetic and genome research

authors： Sawa A,Tomoda T,Bae BI

更新日期：2003-01-01 00:00:00

abstract：:There is incredible morphological and behavioral diversity among the hundreds of breeds of the domestic dog, CANIS FAMILIARIS. Many of these breeds have come into existence within the last few hundred years. While there are obvious phenotypic differences among breeds, there is marked interbreed genetic homogeneity. Th...

journal_title：Cytogenetic and genome research

authors： Greer KA,Cargill EJ,Cox ML,Clark LA,Tsai KL,Credille KM,Dunstan RW,Venta PJ,Murphy KE

更新日期：2003-01-01 00:00:00

abstract：:Early, rapid and reliable diagnosis is of first priority in prenatal medicine. The combination of specific sonographic markers (e.g. nuchal translucency) and biochemical parameters in maternal serum (e.g. free beta-human chorionic gonadotropin, pregnancy-associated plasma protein A), has already dramatically improved ...

journal_title：Cytogenetic and genome research

authors： Stumm M,Wegner RD,Bloechle M,Eckel H

更新日期：2006-01-01 00:00:00