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Jumping translocation in a phenotypically normal female
Author(s) -
Ballestrem C. L.,
Boavida M. G.,
Zuther C.,
Carreiro M. H.,
David D.,
Gal A.,
Schwinger E.
Publication year - 1996
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.1399-0004.1996.tb03276.x
Subject(s) - chromosomal translocation , genetics , jumping , phenotype , biology , physiology , gene
“Jumping translocation” (jt) refers to a rare type of chromosome mosaic, in which the same portion of a (donor) chomosome is translocated to different (recipient) chromosome sites. It have mainly been observed in lymphocyte cultures of patients with hematologic malignancies. We report a phenotypically normal female carrying a mosaic of two cell lines with the Xq26‐qter segment translocated to the short arm of chromosomes 15 or 21 in peripheral blood lymphocytes. In skin fibroblasts, only the X/21 translocation was detected. We speculate that recombination between homologous repetitive sequences on non‐homologous human acrocentrics may be the cause of such chromosomal rearrangements.