Please use this identifier to cite or link to this item: http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/357
Title: Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia.
Other Titles: Short communication
Authors: Picos Cárdenas, V.J.
Meza Espinoza, Juan Pablo
Gutiérrez Angulo, Melva
Esparza Flores, M.A.
Ayala Madrigal, María de la Luz
Hansmann, I.
González, G.J.R.
Issue Date: 15-Apr-2002
Publisher: Elsevier Science Inc.
Series/Report no.: Cancer Genetics and Cytogenetics;Volume 134, Issue 2, Pages 138–141
Abstract: We 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.
URI: http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/357
ISSN: 2210-7762
Appears in Collections:2409 Artículos

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