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Title: Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia
Author: Picos-Cardenas, V.J.
Meza-Espinoza, J.P.
Gutierrez-Angulo, M.
Esparza-Flores, M.A.
Ayala-Madrigal, M.L.
Hansmann, I.
Gonzalez, G.J.R.
Issue Date: 2002
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. � 2002 Elsevier Science Inc. All rights reserved.
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