Trisomy 1q

Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.

Leukemia

A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.


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PMID (PMCID)
22258345
 MALE Child
Successful treatment of ICE-rituximab chemotherapy and subsequent bone marrow transplantation in a patient with early-relapse Burkitt leukemia and inverted duplication of 1q.
Malbora B, Avci Z, Olgac A, Gursel O, Kurekci E, Ozbek N.
J Pediatr Hematol Oncol. 2012;34(2):e84-5.
We suggest the usage of ICE protocol combined with rituximab in childhood CD20 Burkitt leukemia with poor prognostic criteria such as inverted duplication (1q) mutation.
22258345
 MALE Child
Successful treatment of ICE-rituximab chemotherapy and subsequent bone marrow transplantation in a patient with early-relapse Burkitt leukemia and inverted duplication of 1q.
Malbora B, Avci Z, Olgac A, Gursel O, Kurekci E, Ozbek N.
J Pediatr Hematol Oncol. 2012;34(2):e84-5.
We report a case of CD20 Burkitt leukemia with inverted duplication (1q) mutation, who had an early relapse during NHL-BFM 95 treatment.
22258345
 MALE Child
Successful treatment of ICE-rituximab chemotherapy and subsequent bone marrow transplantation in a patient with early-relapse Burkitt leukemia and inverted duplication of 1q.
Malbora B, Avci Z, Olgac A, Gursel O, Kurekci E, Ozbek N.
J Pediatr Hematol Oncol. 2012;34(2):e84-5.
Inverted duplication (1q) is a chromosomal abnormality with negative effect on outcome of Burkitt leukemia and lymphomas.
19667417
 MALE Middle Aged
Chronic myelomonocytic leukemia with der(9)t(1;9)(q11;q34) as a sole abnormality.
Suh B, Park TS, Kim JS, Song J, Kim J, Yoo JH, Choi JR.
Ann Clin Lab Sci. 2009;39(3):307-12.
Not only does this show an extraordinary type of trisomy 1q, but it reveals a rare recurrent case of der(9)t(1;9)(q11;q34) in patients with monocytic-lineage leukemia.
9554457
 MALE
Translocation t(1;10) (q21;q26) in a case of acute nonlymphocytic leukemia.
Terreros MC, Quesada M, Slavutsky IR.
Acta Haematol. 1998;99(2):92-4.
Chromosome banding studies carried out on bone marrow cells from a 16 year-old boy with an M1 acute nonlymphocytic leukemia (ANLL) revealed an unbalanced translocation involving chromosomes 1 and 10: der(10) t(1;10) (q21;q26) that results in a partial trisomy 1q between bands 1q21-1qter.
3159953
 MALE Infant
Acute megakaryoblastic leukemia in Down's syndrome: report of a case and review of cytogenetic findings.
Suarez CR, Le Beau MM, Silberman S, Fresco R, Rowley JD.
Med Pediatr Oncol. 1985;13(4):225-31.
Serial cytogenetic studies using banding techniques at various stages during the course of the disease (preleukemia, leukemia, remission, and relapse) showed several chromosomal abnormalities (unbalanced translocation between chromosomes 1 and 4 leading to trisomy 1q, trisomy 7q, monosomy 7p, and a reciprocal translocation between chromosomes 10 and 16).