Centromeric linkage in trisomy 21.
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Biomedical subjects
Publications and source records attributed to I A Uchida.
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ICR/Swiss males and females were exposed to 300 R whole-body gamma irradiation. The frequency of aberrations in metaphase I chromosomes recovered from oocytes cultured in vitro was compared with those recovered from spermatocytes irradiated in pachytene and diplotene. The ability of oocytes collected 1 day postirradiation to mature in vitro was not affected, but significantly fewer oocytes cultured 5 days after irradiation matured. The frequency of aberrations in oocytes did not differ from spermatocytes irradiated during diplotene, but significantly more chromosome aberrations were found when pachytene spermatocytes were irradiated. Some variation in the relative frequencies of aberrations was also observed.
Epidemiological studies suggest radiation exposure as a cause of meiotic non-disjunction in humans, but experimental evidence with cytological proof has been lacking. Our results indicate that mitotic nondisjunction of lymphocyte chromosomes can also be induced by exposure to a low dose of radiation. Abnormal segregation can be induced not only when the cells are irradiated but also when nonirradiated cells are incubated with irradiated cell-free plasma or serum. The X and no. 21 chromosomes appear particularly susceptible to nondisjunction.
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Fluorescence markers on chromosome numbers 3, 13, and 14 gave cytological evidence of the paternal origin of the extra haploid set in a premature triploid infant with XXY sex chromosome complement. The mother had discontinued the use of oral contraceptives 13 months prior to conception. It is not possible to tell whether the mechanism involved was fertilization by dispermy or by a diploid sperm.
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With the development of fluorescent staining techniques and their application to human chromosomes, identification of the entire human karyotype is now possible. Of considerable value are the elimination of the guesswork in the pairing of the C group and sex chromosomes and the recognition and characterization of the translocation chromosomes in mongolism.
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