Article
Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication
Fecha
2004Autor
Gonzalez García, J.R.
Bohlander, S.K.
Gutierrez Angulo, M.
Esparza Flores, M.A.
Picos Cardenas, V.J.
Meza Espinoza, J.P.
Ayala Madrigal, M.D.L.L.
Rivera, H.
Institución
Resumen
Recurring chromosome translocations, which are found in leukemia, can result in the inappropriate expression of oncogenes or in the formation of chimeric genes that code for structurally and functionally abnormal proteins. The chromosomal t(1;9)(q23.3?q25;q34) was found in a patient with biphenotypic leukemia. Fluorescence in situ hybridization (FISH) analysis revealed that the break on chromosome 9 occurred in the ABL1 gene. The breakpoint on chromosome 1 occurred distal to the PBX1 gene at 1q23.3, as shown by FISH using BAC RP11-503N16 and RP11-403P14, which flank the PBX1 locus; hence, the ABL1 gene can be fused with another gene distal to PBX1 gene. " 2004 Elsevier Inc. All rights reserved.",,,,,,"10.1016/j.cancergencyto.2003.10.014",,,"http://hdl.handle.net/20.500.12104/39147","http://www.scopus.com/inward/record.url?eid=2-s2.0-2942614881&partnerID=40&md5=8fd475e5072bb9040d21e33b0bc430d2",,,,,,"1",,"Cancer Genetics and Cytogenetics",,"81 83",,"152",,"Scopus WOS",,,,,,,,,,,,"A t(1;9)(q23.3?q25;q34) affecting the ABL1 gene in a biphenotypic leukemia",,"Article"
"40927","123456789/35008",,"Ortiz, G., Universidad de Guadalajara, Mexico; González, A., Universidad Michoacana de san Nicolás de Hidalgo, Mexico; Rosas, M., Instituto Tecnológico y de Estudios Superiores de Occidente, Mexico",,"Ortiz, G. Gonzalez, A. Rosas, M.",,"2008",,"There is enough data in the literature to support an argument showing functional differences between instructions and rules. In an attempt to distinguish these elements, this paper presents the argument that even though instructions and rules are descriptions of particular contingencies, they differ in: a) the moment in which the subject describes the contingency, b) the description's source, and c) their function in behavior acquisition and maintenance. It can be assumed that any situation, both experimental and non-experimental, is made up of three components: 1) stimulus situation (SS), 2) subject's response (R), and 3) response's consequences (C). The description made about each component often possesses four qualities: a) presence, b) relevance, c) specificity, and d) pertinence. These qualities are inclusive and the registered values are the opposite sides of each one (i.e. presence-absence, relevant-irrelevant, generic-specific, pertinent-non pertinent). Should rules and instructions considered to be descriptions of a contingencial array, it would be necessary to have a taxonomy that allows analysis and qualification under similar assessment criteria. Any description can be classified into six identifiable categories; four of them, result from a combination of quality values (i.e. specificity and pertinence), the fifth is based on the mention of irrelevant elements, and the sixth is based on the non-mention of any of the elements: 1) Specific and pertinent (SP), 2) Specific and Non-Pertinent (SNP), 3) Generic and Pertinent (GP), 4 Generic and Non-pertinent (GNP), 5) Irrelevant (I), and 6) Absent (A). This proposal can constitute a useful tool for the study and analysis of contingencial descriptions (i.e. instructions and rules).",,,,,,,,,"http://hdl.handle.net/20.500.12104/39148","http://www.scopus.com/inward/record.url?eid=2-s2.0-67649544108&partnerID=40&md5=09db06e8f954fa0261bcefdde6c53aa2",,,,,,"1",,"Acta Colombiana de Psicologia",,"45 53",,"11",,"Scopus",,,,,,"Contingencial array; Descriptions; Instruction; Rule; Taxonomy",,,,,,"A taxonomy of the analysis of pre and post contingency contact descriptions [Una taxonomía para el análisis de descripciones pre y post contacto con arreglos contingenciales]",,"Article"
"40929","123456789/35008",,"Filonov, A.E., Universidad de Guadalajara, Guadalajara, Mexico, Departamento de Física, Universidad de Guadalajara, Apdo. Postal 4-079, 44421 Guadalajara, Jalisco, Mexico; Monzón, C.O., Universidad de Guadalajara, Guadalajara, Mexico, Departamento de Física, Universidad de Guadalajara, Apdo. Postal 4-079, 44421 Guadalajara, Jalisco, Mexico; Tereschenko, I.E., Universidad de Guadalajara, Guadalajara, Mexico, Departamento de Física, Universidad de Guadalajara, Apdo. Postal 4-079, 44421 Guadalajara, Jalisco, Mexico",,"Filonov, A.E. Monzon, C.O. Tereschenko, I.E.",,"1996",,"A method for making a fast oceanographic survey using a CTD profiler is described. The CTD is provided with a special case and is towed at maximum speed by the research ship. At each station the ship describes one or two smooth circles without slowing down, while the instrument sinks at a rate of up to 5 m/s (depending on the weight of the case). Sampling depth is determined by the length of the towing cable. An example of a fast survey of a micropolygon on the continental platform of the west coast of Mexico is provided. In 5 hours and 21 minutes, 27 vertical records were obtained up to a depth of 120 m, along transects totalling more than 52 km. The possibility of using the fast-survey method for determining the parameters of short internal gravitational waves is also discussed.",,,,,,,,,"http://hdl.handle.net/20.500.12104/39150","http://www.scopus.com/inward/record.url?eid=2-s2.0-0030427427&partnerID=40&md5=fafb63fe6049308d91f1fad72a9e6028",,,,,,"4",,"Geofisica Internacional",,"415 420",,"35",,"Scopus",,,,,,"Fast oceanographic survey; Measurement method",,,,,,"A technique for fast conductivity-temperature-depth oceanographic surveys",,"Article"
"40930","123456789/35008",,"Martínez-Valenzuela, M., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Mexico, Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Rivera, H., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Mexico, Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Mundo-Ayala, J.N., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Mexico, Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; González-Mercado, M.G., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Mexico, Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Dávalos-Rodríguez, I.P., División de Genética, CIBO, Instituto Mexicano del Seguro Social, Mexico, Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico",,"Martinez-Valenzuela, M. Rivera, H. Mundo-Ayala, J.N. Gonzalez-Mercado, M.G. Davalos-Rodriguez, I.P.",,"2010",,"Background: The effects of a balanced X;Autosome translocation [t(X;A)] on the fertility of carrier females led to the definition of the Xq13?q27 region as critical for ovarian function and reproductive lifespan. We describe here a teenager with ovarian failure likely due to a balanced t(X;17)(q22;q25). Case: The 16 year-old patient presented with secondary amenorrhea. She exhibited height of 164 cm, slender habitus, and sexual development Tanner 2. Methods: Hormonal determinations, GTG- and RBG-banded karyotypes, fluorescence in situ hybridization, and human androgen receptor assay. Results: FSH of 141 mIU/ml and LH of 46 mIU/ml); karyotype 46,X,t(X;17)(q22;q25)[30].ish der(X)t(X;17)(17qsubt el+); skewed inactivation of the normal X which was the maternal one as shown by the HUMARA assay. The maternal chromosomes were 46,XX; the father was unavailable. Conclusions: The patient's (X;17) translocation likely accounts for her ovarian failure via an epigenetic down-regulation of ovary expressed 17q25 genes relocated next to the Xq21 POF Critical Region 1 and related to ovarian development and function. Her otherwise inconspicuous phenotype agrees with the preferential inactivation of the normal X-chromosome that preserves the gene homeostasis in women with a balanced t(X;A). Finally, the normal maternal karyotype along with the HUMARA results and the sterility of males carrying a t(X;A) strongly suggests that this t(X;17) was a paternal de novo mutation.",,,,,,,,,"http://hdl.handle.net/20.500.12104/39151","http://www.scopus.com/inward/record.url?eid=2-s2.0-77957732285&partnerID=40&md5=3df9f0f07addefac42c7b1059e8efe3c",,,,,,"3",,"Genetic Counseling",,"269 275",,"21",,"Scopus WOS",,,,,,"Premature ovarian failure; X-chromosome; X;autosome translocation; Xq critical region",,,,,,"A teenager with a t(X;17)(q22;q25) and ovarian failure",,"Article"
"44695","123456789/35008",,"Burnside, R.D., Department of Genetics, University of Alabama at Birmingham, Kaul Genetics Building, 720 20th Street South, Birmingham, AL 35294-0024, United States, Laboratory Corporation of America, Research Triangle Park, NC, United States; Lose, E.J., Department of Genetics, University of Alabama at Birmingham, Kaul Genetics Building, 720 20th Street South, Birmingham, AL 35294-0024, United States; Domínguez, M.G., Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico; Sánchez-Corona, J., Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico, Genética Humana, Universidad de Guadalajara, Instituto Mexicano del Seguro Social, Guadalajara, Mexico; Rivera, H., Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico; Carroll, A.J., Department of Genetics, University of Alabama at Birmingham, Kaul Genetics Building, 720 20th Street South, Birmingham, AL 35294-0024, United States; Mikhail, F.M., Department of Genetics, University of Alabama at Birmingham, Kaul Genetics Building, 720 20th Street South, Birmingham, AL 35294-0024, United States",,"Burnside, R.D. Lose, E.J. Dominguez, M.G. Sanchez-Corona, J. Rivera, H. Carroll, A.J. Mikhail, F.M.",,"2009",,"Here, we report two cases with isolated distal 11q rearrangement and multiple congenital anomalies. Thefirst patient is a two-anda-half year old male referred to our genetics clinic due to dysmorphic features and developmental delay including speech delay. Using conventional andmolecular cytogenetic techniques, we demonstrate that he carries a recombinant chromosome with duplication of the 11q23.3q24.2 region resulting from an intrachromosomal insertion in the father. The second patient was originally reported by Partida-Perez, et al. [Partida-Perez et al., 2006] as having a tandem duplication of the 11q23.3 region. We performed array comparative genomic hybridization (aCGH) on this patient in order to map the exact region of the duplication, and demonstrated that the patient actually had a triplication within 11q23.3. We compare the clinical features of our two patients with those previously reported to further delineate the phenotype of isolated distal 11q duplication. Our study also demonstrates the clinical usefulness of whole genome high resolution aCGH analysis as a powerful molecular cytogenetic tool capable of detecting genomic imbalances due to cytogenetically visible but uncertain rearrangements. " 2009 Wiley-Liss, Inc.