Fluorescence in situ hybridization (FISH) of a whole‐arm translocation involving chromosomes 18 and 20 with α‐satellite DNA probes: Detection of a centromeric DNA break?

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Abstract
Fluorescence in situ hybridization (FISH) with α‐satellite DNA probes was used to study whole‐arm chromosome translocation products in a family in which the propositus was shown to have a monosomy 18p/trisomy 20p imbalance. By this approach, we show that the chromosome 18 α‐satellite DNA block is split into 2 smaller units, whereas the chromosome 20 breakpoint is not included within the α‐satellite DNA region. We found no evidence to suggest that this split α‐satellite DNA region has reduced or impaired the function of the centromere or that it contributed to the phenotype of the propositus. The FISH technique critically demonstrated the involvement of a whole‐arm translocation in this case and provided accurate identification of breakpoints, which was not possible with standard banding techniques. © Wiley‐Liss, Inc.