JUMPING TRANSLOCATION WITH PARTIAL DUPLICATIONS AND TRIPLICATIONS OF CHROMOSOME-7 AND CHROMOSOME-15

We report a 2-year-old female with seizures, mild dysmorphic features and a jumping translocation involving chromosome 15 that results in mu ltiple cell lines with partial duplications and triplications of chrom osomes 7 and 15. Fluorescent in situ hybridization (FISH) and chromoso me microdissection were used to identify the complex nature of the jum ping translocation. Interstitial telomeres were observed at the jumpin g translocation sites. The jumping chromosome rearrangement was also f ound to have a partial duplication of 7p as demonstrated by chromosome microdissection. Despite these paritial duplications and triplication s of chromosomes 7 and 15, the child does not have major birth defects . She does have mild sensorimotor delays. A review of non-Robertsonian jumping translocations is provided.