XL Iso(17q) consists of a green-labeled probe hybridizing to the TP53 gene region at 17p13 and an orange-labeled probe hybridizing to the MPO gene region at 17q22.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

An isochromosome of the long arm of chromosome 17, i(17q), is the most frequent genetic abnormality observed during the disease progression of Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML). The breakpoints are located in the short arm of chromosome 17 within the Smith-Magenis critical region at 17p11. In neuroblastoma and other hematologic malignancies, amplification of 17q is a significant predictive factor for adverse outcome.
Isochromosome 17q, or i(17q), is ocurring in primitive neuroectodermal tumor/medulloblastoma (50%), chronic myeloid leukemia (CML), acute myeloid leukemia (AML), and myelodysplastic syndrome (MDS).

Clinical Applications

• Chronic Myelogenous Leukemia (CML)
• Myelodysplastic Syndrome (MDS)
• Acute Lymphoblastic Leukemia (ALL)

XL Iso(17q) hybridized to lymphocytes. One normal metaphase is shown.

• Fioretos et al (1999) Blood 94:225-232
• Barbouti et al (2004) Am J Hum Genet 74:1-10
• Carvalho et al (2008) Genome Res 18:1724-1732

• Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
• A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
• Distinct roles of ATM and ATR in the regulation of ARP8 phosphorylation to prevent chromosome translocations.
• Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study.
• Immense random colocalization, revealed by automated high content image cytometry, seriously questions FISH as gold standard for detecting EML4-ALK fusion.
• Fluorescence in situ hybridisation assays designed for del(7q) detection uncover more complex rearrangements in myeloid leukaemia cell lines
• Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation.
• A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.
• Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.