dup(1)(q21q32) as a sole cytogenetic event is associated to a leukemic transformation in myelodysplastic syndromes.
Duplication of the long arm of chromosome 1 (1q) has been detected accompanied with other chromosome abnormalities in Myelodysplastic Syndromes (MDS). However, as a sole karyotypic change, it is rarely observed. We present here two patients affected of a MDS that showed a dup(1)(q21q32) as a sole cytogenetic change in their bone marrow cells. Complementary methodologies confirmed the duplication of chromosome 1q and, did not show additional cryptic chromosome abnormalities. One patient acquired a secondary trisomy 8 and the other one progressed toward an acute leukemia with no additional cytogenetic alterations.
Alfaro
Ramona
R
Department of Genetics, Hospital Universitari Son Dureta, Andrea Doria 55, 07014 Palma de Mallorca, Illes Balears, Spain.
Pérez-Granero
Angeles
A
Durán
Maria Antonia
MA
Besalduch
Joan
J
Rosell
Jordi
J
Bernués
Marta
M
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007938:Leukemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D032681:Spectral Karyotyping; D014314:Trisomy