Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.

abstract：:Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency wit...

journal_title：Cytogenetic and genome research

authors： Santoro SL,Hashimoto S,McKinney A,Mihalic Mosher T,Pyatt R,Reshmi SC,Astbury C,Hickey SE

更新日期：2017-01-01 00:00:00

abstract：:Fusions of the Runt-related transcription factor 1 (RUNX1) with different partner genes have been associated with various hematological disorders. Interestingly, the C-terminally truncated form of RUNX1 and RUNX1 fusion proteins are similarly considered important contributors to leukemogenesis. Here, we describe a 59-...

journal_title：Cytogenetic and genome research

authors： Abe A,Yamamoto Y,Katsumi A,Yamamoto H,Okamoto A,Inaguma Y,Iriyama C,Tokuda M,Okamoto M,Emi N,Tomita A

更新日期：2020-01-01 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：: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：: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：: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：:In rye each B chromosome (B) represents 5.5% of the diploid A genome. Rye Bs have several nuclear to whole plant effects although they seem to bear no genes except for the ones that lead to their maintenance within a population. In this context, and considering that rye Bs are enriched in repetitive non-coding regions...

journal_title：Cytogenetic and genome research

authors： Delgado M,Caperta A,Ribeiro T,Viegas W,Jones RN,Morais-Cecílio L

更新日期：2004-01-01 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：:In order to understand the mechanisms of formation of chromosomal aberrations, studies performed on human syndromes with genomic instability can be fruitful. In this report, the results from studies in our laboratory on the importance of the transcription-coupled repair (TCR) pathway on the induction of chromosomal da...

journal_title：Cytogenetic and genome research

authors： Palitti F

更新日期：2004-01-01 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：:Mismatch repair (MMR) systems are central to maintaining genome stability in prokaryotes and eukaryotes. MMR proteins play a fundamental role in avoiding mutations, primarily by removing misincorporation errors that occur during DNA replication. MMR proteins also act during genetic recombination in steps that include ...

journal_title：Cytogenetic and genome research

authors： Surtees JA,Argueso JL,Alani E

更新日期：2004-01-01 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：: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

authors： Bryndorf T,Kirchhoff M,Larsen J,Andreasson B,Bjerregaard B,Westh H,Rose H,Lundsteen C

更新日期：2004-01-01 00:00:00

abstract：:Telomeres are the nucleoprotein structures that cap the ends of linear chromosomes. The length of telomeric DNA is an important determinant of function; with short telomeres triggering either replicative senescence or, in the absence of a functional DNA damage response, telomere fusion. Telomere fusion can trigger cyc...

journal_title：Cytogenetic and genome research

authors： Baird DM

更新日期：2008-01-01 00:00:00

abstract：:The aim of this review is to describe the level of intimacy between Ty retrotransposons (Ty1-Ty5) and their host the yeast Saccharomyces cerevisiae. The effects of Ty location in the genome and of host proteins on the expression and mobility of Ty elements are highlighted. After a brief overview of Ty diversity and ev...

journal_title：Cytogenetic and genome research

authors： Lesage P,Todeschini AL

更新日期：2005-01-01 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：: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：: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：:Centromeres are the sites of kinetochore assembly and spindle fiber attachment and consist of protein-DNA complexes in which the DNA component is typically characterized by the presence of extended arrays of tandem repeats called satellite DNA. Here, we describe the isolation and characterization of a 137-bp-long new ...

journal_title：Cytogenetic and genome research

authors： Nergadze SG,Belloni E,Piras FM,Khoriauli L,Mazzagatti A,Vella F,Bensi M,Vitelli V,Giulotto E,Raimondi E

更新日期：2014-01-01 00:00:00

abstract：:Only mammals have relinquished parthenogenesis as a means of producing descendants. Bi-parental reproduction is necessary due to parent-specific epigenetic modification of the genome during gametogenesis, which leads to non-equivalent expression of imprinted genes from the maternal and paternal alleles. However, a ser...

journal_title：Cytogenetic and genome research

authors： Kono T

更新日期：2006-01-01 00:00:00

abstract：:The karyotype of the pine woods treefrog, Hyla femoralis, is characterized by primitive XY female/XX male sex chromosomes. The sole difference between the X and the Y is the presence of a nucleolus organizer region (NOR) in the X. Due to a deletion of the NOR in the Y, this chromosome is distinctly smaller than the X....

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2003-01-01 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：: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：:Under specific stress treatments, the microspore can be induced in vitro to deviate from its gametophytic development and to reprogram towards embryogenesis, becoming a totipotent cell and forming haploid embryos. These can further regenerate homozygous plants for production of new isogenic lines, an important biotech...

journal_title：Cytogenetic and genome research

authors： El-Tantawy AA,Solís MT,Risueño MC,Testillano PS

更新日期：2014-01-01 00:00:00

abstract：:Geckos (Gekkota) are a highly diversified group of lizards with an exceptional diversity in sex-determining systems. Despite this intriguing documented variability, data on sex determination in many lineages is still scarce. Here, we document the previously overlooked heteromorphic ZZ/ZW sex chromosomes in the thick-t...

journal_title：Cytogenetic and genome research

authors： Pokorná M,Rens W,Rovatsos M,Kratochvíl L

更新日期：2014-01-01 00:00:00

abstract：:The mammalian collagen, type IX, alpha 2 gene (COL9A2) encodes the alpha-2 chain of type IX collagen and is located on horse chromosome 2p16-->p14 harbouring a quantitative trait locus for osteochondrosis. We isolated a bacterial artificial chromosome (BAC) clone containing the equine COL9A2 gene and determined the co...

journal_title：Cytogenetic and genome research

authors： Boneker C,Kuiper H,Drögemüller C,Chowdhary BP,Distl O

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：: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：: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：: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