Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/40466
Title: De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features
Author: Fierro, N.A.
Escobedo-Melendez, G.
De Paz, L.
Realpe, M.
Roman, S.
Panduro-Cerda, Arturo
Issue Date: 2012
Abstract: We determined the serum cytokine profiles during distinct hepatitis A virus-induced clinical courses in children. A significant overexpression of interleukin-1, interleukin-6, tumor necrosis factor-alpha and monocyte chemotactic protein-2 was found in children with intermediate liver injury, whereas the patients with minor liver injury had a significant increase of interleukin-8 and transforming growth factor-beta values. " 2012 by Lippincott Williams & Wilkins.",,,,,,"10.1097/INF.0b013e318258e808",,,"http://hdl.handle.net/20.500.12104/40466","http://www.scopus.com/inward/record.url?eid=2-s2.0-84863982985&partnerID=40&md5=165e2a30328ec04d00812895c2b4c301",,,,,,"8",,"Pediatric Infectious Disease Journal",,"870
871",,"31",,"Scopus
WOS",,,,,,"children; cytokines; hepatitis A virus; liver injury",,,,,,"Cytokine expression profiles associated with distinct clinical courses in hepatitis a virus-infected children",,"Article" "42262","123456789/35008",,"Neira, V.A., División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Jalisco, Mexico, Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Romero-Espinoza, P., División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Jalisco, Mexico, Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Rojas-Martínez, A., Departamento de Bioquímica y Medicina Molecular. Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, Mexico, Unidad de Biología Molecular, Genómica y Secuenciación, Centro de Investigación y Desarrollo en Ciencias de la Salud, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, Mexico; Ortiz-López, R., Departamento de Bioquímica y Medicina Molecular. Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, Mexico, Unidad de Biología Molecular, Genómica y Secuenciación, Centro de Investigación y Desarrollo en Ciencias de la Salud, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, Mexico; Córdova-Fletes, C., Departamento de Bioquímica y Medicina Molecular. Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, Mexico, Unidad de Biología Molecular, Genómica y Secuenciación, Centro de Investigación y Desarrollo en Ciencias de la Salud, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, Mexico; Plaja, A., Programa de Medicina Molecular i Genética, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Barros-Núñez, P., División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Jalisco, Mexico",,"Neira, V.A.
Romero-Espinoza, P.
Rojas-Martinez, A.
Ortiz-Lopez, R.
Cordova-Fletes, C.
Plaja, A.
Barros-Nunez, P.",,"2013",,"Xq28 duplication, including the MECP2 gene, is among the most frequently identified Xq subtelomeric rearrangements. The resulting clinical phenotype is named Lubs syndrome and mainly consists of intellectual disability, congenital hypotonia, absent speech, recurrent infections, and seizures. Here we report a Mexican male patient carrying a supernumerary marker chromosome with de novo Xq28 gain. By MLPA, duplication of MECP2, GDI1, and SLC6A8 was found and a subsequent a-CGH analysis demonstrated that the gain spanned ~. 2.1. Mb. Despite gain of the MECP2 gene, the features of this patient do not evoke Lubs syndrome. Probably the mosaicism of the supernumerary marker chromosome is modifying the phenotype in this patient. " 2013 Elsevier B.V.
URI: http://hdl.handle.net/20.500.12104/40483
http://www.scopus.com/inward/record.url?eid=2-s2.0-84878639835&partnerID=40&md5=7c1f3927c2cc108b33c0a9b95df90bdf
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