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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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