title: Molecular cytogenetic studies characterize a near-triploid complex karyotype in a child with acute lymphoblastic leukemia.
abstract: High hyperdiploidy with modal chromosome numbers between 50 and 65 is common in childhood acute lymphoblastic leukemia (ALL), occurring in 25-30% of the cases. This chromosomal constitution is associated with a very good prognosis. By contrast, near triploidy and tetraploidy are found in <1% of childhood ALL. Given the sparseness of this group, the associated chromosomal abnormalities and their prognostic implications have not yet been studied in detail. Here, we describe clinical and molecular cytogenetic findings in a child with ALL who had a near-triploid complex karyotype, with loss and gain of chromosomes, including extra copies of the same derivative chromosomes. These findings suggest a random nondisjunction mechanism for near triploidy in the present case.
authors.affiliation: Jena University Hospital, Institute of Human Genetics and Anthropology, Jena, Germany.
authors.forename: Hasmik
authors.initials: H
authors.lastname: Mkrtchyan
authors.forename: Daniela Ribeiro
authors.initials: DR
authors.lastname: Garcia Ney
authors.forename: Eliane Soares
authors.initials: ES
authors.lastname: de Ventura
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.forename: Gabriel Rafael
authors.initials: GR
authors.lastname: Felix
authors.forename: Terezinha de Jesus
authors.initials: Tde J
authors.lastname: Marques-Salles
authors.forename: Eliana
authors.initials: E
authors.lastname: Abdelhay
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Macedo Silva
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007621:Karyotyping; D011123:Polyploidy; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*