title: Jumping translocation in a phenotypically normal female.
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.
authors: Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
authors: C L
authors: CL
authors: von Ballestrem
authors: M G
authors: MG
authors: Boavida
authors: C
authors: C
authors: Zuther
authors: M H
authors: MH
authors: Carreiro
authors: D
authors: D
authors: David
authors: A
authors: A
authors: Gal
authors: E
authors: E
authors: Schwinger
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002891:Chromosomes, Human, Pair 21; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D014178:Translocation, Genetic; D014960:X Chromosome