Por favor, use este identificador para citar o enlazar este ítem: https://hdl.handle.net/20.500.12104/43496
Título: Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia
Autor: 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.
Fecha de publicación: 2002
Resumen: 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.
URI: http://www.scopus.com/inward/record.url?eid=2-s2.0-0037089518&partnerID=40&md5=e9b5be853bb029d476ea6611e83b9f9a
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