Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia.

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.

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Campo DC	Valor	Lengua/Idioma
dc.creator	Picos Cárdenas, V.J.	-
dc.creator	Meza Espinoza, Juan Pablo	-
dc.creator	Gutiérrez Angulo, Melva	-
dc.creator	Esparza Flores, M.A.	-
dc.creator	Ayala Madrigal, María de la Luz	-
dc.creator	Hansmann, I.	-
dc.creator	González, G.J.R.	-
dc.date	2015-07-22T14:39:56Z	-
dc.date	2015-07-22T14:39:56Z	-
dc.date	2002-04-15	-
dc.date.accessioned	2019-04-07T23:48:04Z	-
dc.date.available	2019-04-07T23:48:04Z	-
dc.identifier	2210-7762	-
dc.identifier	DOI: http://dx.doi.org/10.1016/S0165-4608(01)00607-0	-
dc.identifier	http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/357	-
dc.identifier.uri	https://hdl.handle.net/20.500.12104/72559	-
dc.description	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.	-
dc.description	Universidad de Guadalajara and División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México Departamento de Hematología, Hospital de Pediatría, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México Departamento de Fisiología, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico Institut fuer Humangenetik und Medizinishe Biologie, Universitaet Halle-Wittenberg, Halle\Saale, Germany	-
dc.language	en_US	-
dc.publisher	Elsevier Science Inc.	-
dc.relation	Cancer Genetics and Cytogenetics;Volume 134, Issue 2, Pages 138–141	-
dc.title	Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia.	-
dc.title	Short communication	-
dc.type	Article	-
Aparece en las colecciones:	CUALTOS

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