7q22.1-q22.2, Red
7q31.2, Green
The 7q22 probe, labelled in red, covers a 396kb region including the telomeric end of the RELN gene and extending beyond the marker D7S658. The 7q31 probe, labelled in green, covers a 203kb region including the TES gene.
Monosomy of chromosome 7 and deletions of the long arm of chromosome 7 are recognised recurrent chromosomal aberrations frequently seen in myeloid disorders.
Monosomy 7 and del(7q) are seen in a number of myeloid disorders, including myelodysplastic syndrome (MDS), acute myeloid leukaemia (AML), and juvenile myelomonocytic leukemia (JMML)1. Furthermore, it occurs in MDS and AML that develop in patients with constitutional disorders (eg, Fanconi anaemia, Kostmann syndrome, neurofibromatosis type 1, and familial monosomy 7)2. The presence of Monosomy 7 or del(7q) as karyotypic changes are associated with a poorer outcome in myeloid malignancies1,3.
Deletions of chromosome 7 are typically large with heterogeneity in the breakpoints in myeloid diseases, making it difficult to map the common deleted regions (CDRs). It is highly likely that multiple tumour suppressor genes on chromosome 7 cooperate in leukaemogenesis4.
| Technical document | Download |
