Constitutional chromosome instability so far has mainly been associated with ring formation. In addition, isochromosome formation involving the short arm with translocation of the entire long arm is rarely observed. This type of rearrangement has been reported for chromosomes 4, 5, 7, 9, 10, 12, and 20. Here, we present the third patient having an isochromosome 4p with 4q translocation, but showing for the first time chromosome instability detected by FISH following chromosome microarray analysis.
Bibliographical notePublisher Copyright:
© 2015 S. Karger AG, Basel.
- Chromosome instability
- Isochromosome 4p
- Trisomy 4p syndrome