Jumping translocation with partial duplications and triplications of chromosomes 7 and 15.
We report a 2-year-old female with seizures, mild dysmorphic features and a jumping translocation involving chromosome 15 that results in multiple cell lines with partial duplications and triplications of chromosomes 7 and 15. Fluorescent in situ hybridization (FISH) and chromosome microdissection were used to identify the complex nature of the jumping translocation. Interstitial telomeres were observed at the jumping translocation sites. The jumping chromosome rearrangement was also found to have a partial duplication of 7p as demonstrated by chromosome microdissection. Despite these partial duplications and triplications 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.
Jewett
T
T
Department of Pediatrics, Section on Medical Genetics, Bowman Gray School of Medicine of Wake Forest University Medical Center, Winston-Salem, North Carolina 27157, USA.
Marnane
D
D
Stewart
W
W
Hayworth-Hodge
R
R
Finklea
L
L
Klinepeter
K
K
Rao
P N
PN
Pettenati
M J
MJ
D000328:Adult; D000782:Aneuploidy; D002648:Child; D002871:Chromosome Banding; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D016615:Telomere / Q000235:genetics; D014178:Translocation, Genetic