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Title:	Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia. Short communication
Publisher:	Elsevier Science Inc.
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. 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
URI:	https://hdl.handle.net/20.500.12104/72559
Other Identifiers:	2210-7762 DOI: http://dx.doi.org/10.1016/S0165-4608(01)00607-0 http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/357
Appears in Collections:	CUALTOS

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