Origin of symmetrical triradial chromosomes in human cells.
We have collected 23 sporadic symmetrical triradial chromosomes (plus one D with duplicate satellites), 22 from cultured lymphocytes and one from a bone marrow cell. Fifteen triradials were from patients with Bloom's syndrome, and two from a Fanconi's anemia patient. The following chromosomes and chromosome groups were involved: 1, 2, 3, 4, 5, C(11 identified), D, and 17. The branchpoints were localized nonrandomly. Regions in or near centric heterochromatin were often involved. Some of the branchpoints are regions which also contain a high number of mitotic chiasmata. When the present sporadic triradials combined with those from the literature were compared with triradials with branchpoints in the "fragile regions", the localized branchpoints were different in these two groups. Our conclusion that most -- possibly all -- symmetrical triradials are caused by partial endoreduplication is based on the following observations: the shape of the triradials which shows that the extra segments are paired with their intact sister chromatids and not with each other; the failure of X-rays in G2 to increase the incidence of symmetrical triradials; the fact that in some cases the end of the extra segment is joined to its intact sister chromatid; and the occurrence of duplicate satellites.
D000568:Amenorrhea; D000741:Anemia, Aplastic / Q000235:genetics*; D001816:Bloom Syndrome / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D006570:Heterochromatin / Q000648:ultrastructure; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology*
D006570:Heterochromatin