Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/43496
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dc.contributor.authorPicos-Cardenas, V.J.
dc.contributor.authorMeza-Espinoza, J.P.
dc.contributor.authorGutierrez-Angulo, M.
dc.contributor.authorEsparza-Flores, M.A.
dc.contributor.authorAyala-Madrigal, M.L.
dc.contributor.authorHansmann, I.
dc.contributor.authorGonzalez, G.J.R.
dc.date.accessioned2015-09-15T18:36:20Z-
dc.date.available2015-09-15T18:36:20Z-
dc.date.issued2002
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-0037089518&partnerID=40&md5=e9b5be853bb029d476ea6611e83b9f9a
dc.identifier.urihttp://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&D=med4&AN=12034527
dc.identifier.urihttp://hdl.handle.net/20.500.12104/43496-
dc.description.abstractWe report a boy with Down syndrome and leukemia who acquired uniparental isodisomy of chromosome 7q as a secondary chromosomal change during recurrence of the disease. His karyotype before therapy was 46,XY,der(1)t(1;1)(p36;q32),-7,+21c[17]/46,idem,del(9)(p22)[10], whereas at recurrence it was 46,XY,der(1)t(1;1)(p36;q32,-7,der(7)(qter?p22?pter::q10?qter), del(9)(p22),+21c[13]/47,XY,+21c[2]. By using polymerase chain reaction amplification of D7S493 and D7S527 markers, we identified the loss of the maternal chromosome 7 with a consequent paternal isodisomy in the clone with dup7q. This rearrangement could be implicated in the progression of the disease by causing (1) nullisomy for a gene or genes located on 7p22?pter, (2) functional double doses of exclusively paternal expressed genes, and (3) restoration of the effects produced by haploinsufficiency of biparental expressed genes. � 2002 Elsevier Science Inc. All rights reserved.
dc.relation.isreferencedbyScopus
dc.relation.isreferencedbyMEDLINE
dc.relation.isreferencedbyWOS
dc.titlePaternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia
dc.typeArticle
dc.identifier.doi10.1016/S0165-4608(01)00607-0
dc.relation.ispartofjournalCancer Genetics and Cytogenetics
dc.relation.ispartofvolume134
dc.relation.ispartofissue2
dc.relation.ispartofpage138
dc.relation.ispartofpage141
dc.contributor.affiliationPicos-C�rdenas, V.J., Universidad de Guadalajara and Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico; Meza-Espinoza, J.P., Universidad de Guadalajara and Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico; Guti�rrez-Angulo, M., Universidad de Guadalajara and Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico; Esparza-Flores, M.A., Departamento de Hematolog�a, Hospital de Pediatr�a, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico; Ayala-Madrigal, M.L., Departamento de Fisiolog�a, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Hansmann, I., Institut fuer Humangenetik und Medizinishe Biologie, Universitaet Halle-Wittenberg, HalleSaale, Germany; Gonz�lez, G.J.R., Universidad de Guadalajara and Divisi�n de Gen�tica, Centro de Investigaci�n Biom�dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico
dc.subject.headingIndex Medicus;Child, Preschool;Chromosome Banding;Chromosomes, Human, Pair 7/ge [Genetics];Down Syndrome/co [Complications];Down Syndrome/ge [Genetics];Humans;In Situ Hybridization, Fluorescence;Leukemia, Myeloid, Acute/co [Complications];Leukemia, Myeloid, Acute/ge [Genetics];Male;Polymorphism, Genetic/ge [Genetics];Uniparental Disomy/ge [Genetics]
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