The identification of a dicentric ring chromosome 11 in a patient with MDS by chromosome microdissection PCR and reverse painting (Micro-FISH)
- Univ. of Rochester School of Medicine, Rochester, NY (United States)
Deletions of chromosome 11 are frequently found in myelodyplastic syndrome (MDS). Ring chromosomes, however, are an unusual findings in MDS. The presence of a cell line with a ring chromosome generally portends a poor prognosis. The absence of a normal chromosome 11 and the presence of a ring chromosome as the sole chromosomal aberration was found in a patient 18 months after the initial diagnosis of MDS and 5 months after the diagnosis of a normal karyotype. To identify the origin of the ring chromosome and the breakpoints involved, a recently developed strategy using chromosome microdissection, combined with PCR and reverse painting (micro-FISH), was applied. Five copies of a whole ring chromosome were dissected and then amplified by DOP-PCR. A biotin-labeled probe from the PCR products was painted back to the metaphase spreads of the patient and normal individuals. The ring was verified to be dicentric and derived from chromosome 11 with the breakpoints at p13 and q13, i.e., monosomic for 11p13 to 11pter and 11q13 to 11qter. Our result is compatible with gene loss as a mechanism contributing to leukemogenesis and demonstrated that microdissection combined with PCR and reverse chromosome painting provides a powerful approach for the identification of complicated/subtle structural aberrations in neoplasm.
- OSTI ID:
- 134556
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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