Jumping translocation in a phenotypically normal female.
"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.
von Ballestrem
C L
CL
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Boavida
M G
MG
Zuther
C
C
Carreiro
M H
MH
David
D
D
Gal
A
A
Schwinger
E
E
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