1. Paternal isodisomy 7q secondary to monosomy 7 at recurrence in a Down syndrome child with acute myelogenous leukemia
- Author
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M. A. Esparza-Flores, Melva Gutiérrez-Angulo, Ingo Hansmann, G.J.R. González, Verónica Judith Picos-Cárdenas, María de la Luz Ayala-Madrigal, and J. P. Meza-Espinoza
- Subjects
Male ,Cancer Research ,Down syndrome ,Aneuploidy ,Biology ,Genetics ,medicine ,Humans ,Molecular Biology ,In Situ Hybridization, Fluorescence ,Chromosome 7 (human) ,Polymorphism, Genetic ,Karyotype ,Uniparental Disomy ,medicine.disease ,Molecular biology ,Uniparental disomy ,Chromosome Banding ,Leukemia, Myeloid, Acute ,Uniparental Isodisomy ,Child, Preschool ,Down Syndrome ,Haploinsufficiency ,Trisomy ,Chromosomes, Human, Pair 7 - 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.
- Published
- 2002