De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features

dc.contributorNeira, V.A., Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, CMNO-IMSS, Guadalajara, Jalisco, Mexico, Doctorado en Gen�tica Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Romero-Espinoza, P., Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, CMNO-IMSS, Guadalajara, Jalisco, Mexico, Doctorado en Gen�tica Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Rojas-Mart�nez, A., Departamento de Bioqu�mica y Medicina Molecular. Facultad de Medicina, Universidad Aut�noma de Nuevo Le�n, Monterrey, Nuevo Le�n, Mexico, Unidad de Biolog�a Molecular, Gen�mica y Secuenciaci�n, Centro de Investigaci�n y Desarrollo en Ciencias de la Salud, Universidad Aut�noma de Nuevo Le�n, Monterrey, Nuevo Le�n, Mexico; Ortiz-L�pez, R., Departamento de Bioqu�mica y Medicina Molecular. Facultad de Medicina, Universidad Aut�noma de Nuevo Le�n, Monterrey, Nuevo Le�n, Mexico, Unidad de Biolog�a Molecular, Gen�mica y Secuenciaci�n, Centro de Investigaci�n y Desarrollo en Ciencias de la Salud, Universidad Aut�noma de Nuevo Le�n, Monterrey, Nuevo Le�n, Mexico; C�rdova-Fletes, C., Departamento de Bioqu�mica y Medicina Molecular. Facultad de Medicina, Universidad Aut�noma de Nuevo Le�n, Monterrey, Nuevo Le�n, Mexico, Unidad de Biolog�a Molecular, Gen�mica y Secuenciaci�n, Centro de Investigaci�n y Desarrollo en Ciencias de la Salud, Universidad Aut�noma de Nuevo Le�n, Monterrey, Nuevo Le�n, Mexico; Plaja, A., Programa de Medicina Molecular i Gen�tica, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Barros-N��ez, P., Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, CMNO-IMSS, Guadalajara, Jalisco, Mexico
dc.creatorNeira, V.A.
dc.creatorRomero-Espinoza, P.
dc.creatorRojas-Martinez, A.
dc.creatorOrtiz-Lopez, R.
dc.creatorCordova-Fletes, C.
dc.creatorPlaja, A.
dc.creatorBarros-Nunez, P.
dc.date.accessioned2015-09-15T17:38:57Z
dc.date.accessioned2022-11-02T15:17:11Z
dc.date.available2015-09-15T17:38:57Z
dc.date.available2022-11-02T15:17:11Z
dc.date.created2015-09-15T17:38:57Z
dc.date.issued2013
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84878639835&partnerID=40&md5=7c1f3927c2cc108b33c0a9b95df90bdf
dc.identifierhttp://hdl.handle.net/20.500.12104/40483
dc.identifier10.1016/j.gene.2013.04.029
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/5011809
dc.description.abstractXq28 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.
dc.relationScopus
dc.relationWOS
dc.relationGene
dc.relation524
dc.relation2
dc.relation381
dc.relation385
dc.titleDe novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features
dc.typeArticle


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