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Jumping translocation in a phenotypically normal female.

C L von Ballestrem·M G Boavida·C Zuther·M H Carreiro·D David·A Gal·E Schwinger
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Abstract

"Jumping translocation" jt refers to a rare type of chromosome mosaic, in which the same portion of a (donor) chromosome is translocated to different (recipient) chromosome sites. Jt 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.

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Abnormalities, MultipleChildChromosomes, Human, Pair 21Developmental DisabilitiesFemaleHeterozygoteHumansIn Situ Hybridization, FluorescenceInfantInfant, NewbornIntellectual DisabilityMalePedigreePhenotypePregnancyTranslocation, GeneticX ChromosomeCase ReportsJournal ArticleResearch Support, Non-U.S. Gov't

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C L von Ballestrem, M G Boavida, C Zuther, M H Carreiro, D David, A Gal, E Schwinger. 1996. Jumping translocation in a phenotypically normal female.. https://doi.org/10.1111/j.1399-0004.1996.tb03276.x

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