Triplication of 1q in Fanconi anemia

Triplication of 1q in a Patient with Myelodysplastic Syndrome

“…Thus, triplication of 1q in MDS is seemed to be associated with different triplicated region than other diseases. 3,[7][8][9][10][11][12][13][14] Triplication of chromosome 1 may be induced by several mechanisms, and one of these, tandem triplication, was observed in our patient. According to Knuutila,3) all karyotypes recovered from erythroid and granulocyte-monocyte colonies showed a duplication abnormality in chromosome 1, whereas the cells in direct bone marrow preparations showed triplication and duplication of 1q.…”

“…[2][3][4][5] In contrast, tetrasomy of 1q which results from triplication of 1q, is a very rare cytogenetic abnormality that seems to be related to Fanconi anemia (FA) and MDS. 6,7) According to published literature, only nine cases with triplication of 1q have been reported and three of these were FA patients. 3,[7][8][9][10][11][12][13][14] We report here on a case of triplication of 1q in a patient with MDS and adenocarcinoma of stomach.…”

“…6,7) According to published literature, only nine cases with triplication of 1q have been reported and three of these were FA patients. 3,[7][8][9][10][11][12][13][14] We report here on a case of triplication of 1q in a patient with MDS and adenocarcinoma of stomach. described, 15) and revealed a normal karyotype with no chromosomal instability (Fig.…”

Myelodysplastic syndrome with an unbalanced 1;16 translocation in a case of early age of onset

“…Other less frequent but nonrandom chromosomal abnormalities in MDS is a partial trisomy of chromosome 1q which is mostly resulted from unbalanced translocations or simple duplication of 1q [4][5][6][7]. The unbalanced t(1;16) translocation has been described previously in six cases diagnosed with MDS [8][9][10].…”

Hereditary duplication of proximal chromosome 1q (q11q22) in a patient with T lymphoblastic lymphoma/leukaemia: a family study using G banding and comparative genomic hybridisation

“…[1][2][3][4][5][6] Complete or partial trisomy of 1q has been reported in cases of acute myeloid leukaemia, myelodysplastic syndrome, myeloproliferative diseases, Fanconi anaemia, and B lineage lymphomas, where involvement of 1q21 is frequently observed. [7][8][9][10][11][12][13][14] …”