Authors report on a case of partial 9p duplication, involving the 9p22- 9p24 region. This represents the second case of such duplication in which the breakpoints were precisely defined using fluorescence in situ hybridisation (FISH) with chromosome 9 specific painting and YAC DNA probes, localised onto 9p22-9p24 region. FISH analysis pinpointed chromosome breakpoints in dup(9)(p22p24) and excluded an insertion or a translocation from other chromosomes. The present report supports the segment 9p22-9p24 as the critical region for the observed phenotype of the duplication 9p syndrome.
|Number of pages||3|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - 2000|
- Chromosome 9p
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