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.

Aberrations of the long arm of chromosome 1 have been linked to many diseases, both in acquired somatic neoplastic conditions and constitutional genetic disorders. These abnormalities include structural rearrangements and various deletions or amplifications affecting whole chromosome arms or specific regions. Gain of chromosome 1q has been reported in many solid tumours, including invasive carcinomas of the breast, cervical cancers, renal cell carcinoma, sarcomas, and hepatocellular carcinomas. 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.