Premium
Jumping translocation with partial duplications and triplications of chromosomes 7 and 15
Author(s) -
Jewett T.,
Marnane D.,
Stewart W.,
HayworthHodge R.,
Finklea L.,
Klinepeter K.,
Rao PN,
Pettenati MJ
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02757.x
Subject(s) - chromosomal translocation , jumping , biology , karyotype , chromosome , microdissection , fluorescence in situ hybridization , genetics , chromosomal rearrangement , gene duplication , physiology , gene
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 paritial 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.