title: Pentasomy 21 in leukemia complicating Diamond-Blackfan anemia.
abstract: We present the cytogenetic pattern of a leukemic infant with Diamond-Blackfan anemia (DBA). The karyotype was characterized by clonal evolution involving consecutive gains of chromosome 21 up to pentasomy. No chromosomal changes were present in normal lymphocytes. Such a karyotype evolution has been described in some cases of acute leukemia associated with Down Syndrome, but rarely in non-Down cases.
authors.affiliation: Department of Pediatric Hematology/Oncology, G. Gaslini Children's Hospital, Genova, Italy.
authors.forename: P G
authors.initials: PG
authors.lastname: Mori
authors.forename: R
authors.initials: R
authors.lastname: Haupt
authors.forename: G
authors.initials: G
authors.lastname: Fugazza
authors.forename: M
authors.initials: M
authors.lastname: Sessarego
authors.forename: A
authors.initials: A
authors.lastname: Corcione
authors.forename: P
authors.initials: P
authors.lastname: Strigini
authors.forename: R
authors.initials: R
authors.lastname: Sansone
mesh_terms: D002891:Chromosomes, Human, Pair 21; D005199:Fanconi Anemia / Q000150:complications*; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000209:etiology / Q000235:genetics*; D008297:Male; D011123:Polyploidy