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Cytogenetic characteristics in a family: fragile 16q22, giant satellite, aneuploidy, and bleomycin sensitivity of three generations

Vicki Hopwood^I; T.C. Hsu^I; Sen Pathak^I; Dindyal Ramkissoon^{I, IV}; Guy R. Newell^II; J. David Martina^III

^IDepartment of Cell Biology, The University of Texas, M.D. Anderson Hospital and Tumor Institute at Houston, Houston, TX 77030, USA. Send correspondence to S.P.
^IIDepartment of Cancer Prevention and Control, The University of Texas, M.D. Anderson Hospital and Tumor Institute at Houston, Houston, TX 77030, USA
^IIIP.O. Box 190, Alpena, AK 72611, USA
^IVPresent address: Perceptive Systems, Inc., 2525 South Shore Blvd., League City, TX 77573, USA

ABSTRACT

Several cytogenetic characteristics were found in a family of three generations: a fragile site at 16q22, a giant satellite at 15p, bleomycin sensitivity, and spontaneous chromosome aberrations. At least two of these, the fragile site and the giant satellite, are inherited traits. Bleomycin sensitivity may have a hereditary basis also, but the mode of inheritance is not yet clear. Spontaneous chromosome aberrations appear to be associated with aging. The fragile site was expressed without the addition of any chemicals to the medium, and was observed in many members of this family. When C-band was used as a marker to distinguish the two No. 16 chromosomes, this fragile site was found to occur in one particular chromosome No. 16 that had a larger C-band than the homolog, suggesting that fragility is inherited through a particular chromosome. The giant satellite exhibited Q-fluorescence as bright as the Y heterochromatin. Although the giant satellite was primarily located at 15p, in several metaphases of one individual it was found to have been transposed to other D- and G-group chromosomes. Exchanges between ribosomal cistrons between acrocentrics probably occur frequently, but without the brightly fluorescent giant satellite as a marker they would be difficult to detect.

Keywords: cytogenetic; giant; satellite; aneuploidy; bleomycin; generations.

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