2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.

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：: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：:Despite extensive analyses on the centromere and its associated proteins, detailed studies of centromeric DNA structure have provided limited information about its topography in condensed chromatin. We have developed a method with correlative fluorescence light microscopy and atomic force microscopy that investigates ...

journal_title：Cytogenetic and genome research

authors： Khan WA,Chisholm R,Tadayyon S,Subasinghe A,Norton P,Samarabandu J,Johnston LJ,Knoll JH,Rogan PK

更新日期：2013-01-01 00:00:00

abstract：:Chloroplasts and mitochondria are semi-autonomous organelles and have their own genomes (cytoplasmic genomes). Physical radiations (e.g., γ-rays) have been widely used in artificial mutation induction for plant germplasm enhancement and for breeding new cultivars. However, little is known at the genomic level about wh...

journal_title：Cytogenetic and genome research

authors： Zheng Y,Li S,Huang J,Fan L,Shu Q

更新日期：2020-01-01 00:00:00

abstract：:The sense of taste is a chemosensory system responsible for basic food appraisal. Humans distinguish between five primary tastes: bitter, sweet, sour, salty and umami. The molecular events in the perception of bitter taste are believed to start with the binding of specific water-soluble molecules to G-protein-coupled ...

journal_title：Cytogenetic and genome research

authors： Conte C,Ebeling M,Marcuz A,Nef P,Andres-Barquin PJ

更新日期：2002-01-01 00:00:00

abstract：:We report on the conventional cytogenetic and fluorescence in situ hybridization (FISH) results obtained for a 3.5-year-old girl with developmental and language delay and a supernumerary ring chromosome mosaicism in 8% of T-lymphocytes analyzed. Using different conventional and molecular cytogenetic techniques as YAC ...

journal_title：Cytogenetic and genome research

authors： Tönnies H,Hennies HC,Spohr HL,Neitzel H

更新日期：2003-01-01 00:00:00

abstract：:We previously revealed similarity in gene expression patterns between human brain and testis, based on digital differential display analyses of 760 human Unigenes. In the present work, we reanalyzed the gene expression data in many tissues of human and mouse for a large number of genes almost covering the respective w...

journal_title：Cytogenetic and genome research

authors： Guo JH,Huang Q,Studholme DJ,Wu CQ,Zhao Z

更新日期：2005-01-01 00:00:00

abstract：:Microdeletions of 3q29 have previously been reported, but the postulated reciprocal microduplication has only recently been observed. Here, cases from four families, two ascertained in Toronto (Canada) and one each from Edinburgh (UK) and Leiden (Netherlands), carrying microduplications of 3q29 are presented. These fa...

journal_title：Cytogenetic and genome research

authors： Goobie S,Knijnenburg J,Fitzpatrick D,Sharkey FH,Lionel AC,Marshall CR,Azam T,Shago M,Chong K,Mendoza-Londono R,den Hollander NS,Ruivenkamp C,Maher E,Tanke HJ,Szuhai K,Wintle RF,Scherer SW

更新日期：2008-01-01 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：: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 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：:Genome projects allow us to sample copies of a retrotransposon sequence family residing in a host genome. The variation in DNA sequence between these individual copies will reflect the evolutionary process that has spread the sequences through the genome. Here I review quantitatively the expected diversity of elements...

journal_title：Cytogenetic and genome research

authors： Brookfield JF

更新日期：2005-01-01 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：:Interspaced repetitive DNA elements and segmental duplications have been extensively analyzed in fishes through physical chromosome mapping methods, providing a better comprehension of the structure and organization of the genome of this group. In order to contribute to this scenario, a sequence integration study of d...

journal_title：Cytogenetic and genome research

authors： Sczepanski TS,Vicari MR,de Almeida MC,Nogaroto V,Artoni RF

更新日期：2013-01-01 00:00:00

abstract：:In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. Fluorescence in situ hybridization (FISH) analysis using high resolu...

journal_title：Cytogenetic and genome research

authors： Polityko A,Starke H,Rumyantseva N,Claussen U,Liehr T,Raskin S

更新日期：2005-01-01 00:00:00

abstract：:The Hodgkin cell line U-HO1 was established from a malignant pleural effusion of a 23-year-old male patient during the end stage of refractory nodular sclerosing classical Hodgkin lymphoma (cHL). Since its establishment in 2005, U-HO1 has maintained stable characteristics in vitro and has a doubling time of about 4 da...

journal_title：Cytogenetic and genome research

authors： Mader A,Bruderlein S,Wegener S,Melzner I,Popov S,Muller-Hermelink HK,Barth TF,Viardot A,Moller P

更新日期：2007-01-01 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：: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：: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：:PCR protocols incorporating fluorescently labeled multiplexed primer combinations were developed to produce a linkage map for bison. Three hundred fifty eight microsatellite loci spanning all 29 autosomes were genotyped via 83 PCR multiplexes and nine individual amplifications. A total of 292 markers were integrated i...

journal_title：Cytogenetic and genome research

authors： Schnabel RD,Taylor JF,Derr JN

更新日期：2003-01-01 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：:We have tested the influence of recombinantly-elongated chromosome arms on nuclear divisions in barley and confirmed a rule according to which half the length of the average spindle axis defines the upper tolerance limit for chromosome arm length. A slightly longer chromosome arm caused incomplete separation of sister...

journal_title：Cytogenetic and genome research

authors： Hudakova S,Künzel G,Endo TR,Schubert I

更新日期：2002-01-01 00:00:00

abstract：:Telomerase is expressed in more than 90% of human cancers. Telomere maintenance by this enzyme is believed to safeguard genomic integrity in neoplastic cells. Nevertheless, many telomerase-expressing tumours exhibit chromosomal instability triggered by short, dysfunctional telomeres, implying that active telomerase is...

journal_title：Cytogenetic and genome research

authors： Calcagnile O,Gisselsson D

更新日期：2007-01-01 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：: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：:Understanding how increased genome size and diversity within polyploid genomes impacts plant evolution and breeding continues to be challenging. Although historical studies by McClintock suggested the importance of transposable elements mediated by polyploidisation on genomic changes, data from plant crosses remain sc...

journal_title：Cytogenetic and genome research

authors： Bento M,Tomás D,Viegas W,Silva M

更新日期：2013-01-01 00:00:00

abstract：:In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive ...

journal_title：Cytogenetic and genome research

authors： Soler A,Morales C,Mademont-Soler I,Margarit E,Borrell A,Borobio V,Muñoz M,Sánchez A

更新日期：2017-01-01 00:00:00

abstract：:Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this ...

journal_title：Cytogenetic and genome research

authors： Riccardi F,Rivolta GF,Uliana V,Grati FR,La Starza R,Marcato L,Di Perna C,Quintavalle G,Garavelli L,Rosato S,Sammarelli G,Neri TM,Tagliaferri A,Martorana D

更新日期：2015-01-01 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