Pentasomy 21 in leukemia complicating Diamond-Blackfan anemia.
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.
Mori
P G
PG
Department of Pediatric Hematology/Oncology, G. Gaslini Children's Hospital, Genova, Italy.
Haupt
R
R
Fugazza
G
G
Sessarego
M
M
Corcione
A
A
Strigini
P
P
Sansone
R
R
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