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Title: 46,XX ovotesticular disorder in a Mexican patient with Beckwith-Wiedemann syndrome: A case report
Author: Villavicencio, L.
Lopez-Franco, C.
Arana-Daniel, N.
Lopez-Franco, L.
Issue Date: 2013
Abstract: In this paper we introduce a representation for object verification and a system for object recognition based on local features, invariant moments, silhouette creation and a 'net' reduction for depth information. The results are then compared with some of the most recent approaches for object detection such as local features and orientation histograms. Additionally, we used depth information to create descriptors that can be used for 3D verification of detected objects. Moments are computed from a 3D set of points which are arranged to create a descriptive object model. This information showed to be of matter in the decision whether the object is present within the analyzed image segment, or not. " 2013 Springer-Verlag Berlin Heidelberg.",,,,,,"10.1007/978-3-642-38989-4_6",,,"","",,,,,,,,"Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)",,"54
63",,"7914 LNCS",,"Scopus",,,,,,"object detection; object verification; visual pattern recognition",,,,,,"3D representation for object detection and verification",,"Conference Paper" "40682","123456789/35008",,"Macías-Gómez, N.M., Departamento de Salud y Bienestar, Centro Universitario Del sur, Ciudad Guzmán, Av. Prolongación Colón s/n, Km. 1, Jalisco, 49000, Mexico; Leal-Ugarte, E., Unidad Académica de Ciencias de la Salud y Tecnología, UAT, Matamoros, Tamps, Mexico; Gutiérrez-Angulo, M., Centro Universitario de Los Altos, U de G, Tepatitlán de Morelos, Jalisco, Mexico; Domínguez-Quezada, G., Centro de Investigación Biomédica de Occidente-IMSS, Guadalajara, Jalisco, Mexico; Rivera, H., Centro de Investigación Biomédica de Occidente-IMSS, Guadalajara, Jalisco, Mexico; Barros-Núñez, P., Centro de Investigación Biomédica de Occidente-IMSS, Guadalajara, Jalisco, Mexico",,"MacIas-Gamez, N.M.
Leal-Ugarte, E.
Gutierrez-Angulo, M.
Dominguez-Quezada, G.
Rivera, H.
Barros-Nuez, P.",,"2012",,"Introduction: Beckwith-Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith-Wiedemann syndrome cases are sporadic. Beckwith-Wiedemann syndrome molecular etiologies are complex and involve the two imprinting centers 1 (IC1) and 2 (IC2) of 11p15 region. This case report describes, for the first time, the unusual association of ovotesticular disorder in a patient from Morelia, Mexico with Wiedemann-Beckwith syndrome. Case presentation: We report the case of a Mexican six-year-old girl with Beckwith-Wiedemann Syndrome, ambiguous genitalia, and bilateral ovotestes. She has a 46,XX karyotype without evidence of Y-chromosome sequences detected by fluorescence in situ hybridization with both SRY and wcp-Y probes. Conclusion: Although a random association between these two conditions cannot be excluded, future analysis of this patient with Beckwith-Wiedemann syndrome and 46,XX ovotesticular disorder may lead to new insights into these complex pathologies. We speculate that a possible misregulation in the imprinted genes network has a fundamental role in the coexistence of these two disorders. " 2012 Macias-Gomez et al.; licensee BioMed Central Ltd.
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