An unstable giant satellite associated with chromosomes 21 and 22 in the same individual

The short arms of the acrocentric chromosomes are among the most common sites in which to find human chromosomal heteromorphisms. Heteromorphic chromosomes are noted for their variability between individuals and populations; however, they generally are consistent within an individual. Contrary to th...

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Bibliographic Details
Published in:American journal of human genetics 1985-05, Vol.37 (3), p.553-560
Main Authors: LIVINGSTON, G. K, LOCKEY, J. E, WITT, K. S, ROGERS, S. W
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chemical mutagenesis
Chromosomes, Human, 21-22 and Y - ultrastructure
Female
Fibroblasts - ultrastructure
Humans
Insecticides - adverse effects
Karyotyping
Lymphocytes - ultrastructure
Medical sciences
Occupational Diseases - chemically induced
Occupational Diseases - genetics
Polymorphism, Genetic
Sister Chromatid Exchange - drug effects
Staining and Labeling
Time Factors
Toxicology
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Summary:The short arms of the acrocentric chromosomes are among the most common sites in which to find human chromosomal heteromorphisms. Heteromorphic chromosomes are noted for their variability between individuals and populations; however, they generally are consistent within an individual. Contrary to this general rule, a normal female was found to have a giant satellite on the short arm of a chromosome 22 in most lymphocytes and fibroblasts, but in other cells, it was attached to a chromosome 21. Furthermore, in some cells, it was found on multiple chromosomes, that is, on both 22's or on a 21 and a 22. The familial nature of this heteromorphism was established when it was found in the woman's mother, where it was confined exclusively to chromosome 22. These results suggest an unstable giant satellite associated with both G-group chromosomes of a normal individual. Results are discussed in the light of the patient's occupational exposure to insecticides at a mushroom farm.
ISSN:0002-9297
1537-6605