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Three dicentric Y chromosomes *
Author(s) -
ANGELL R.,
GIANNELLI F.,
POLANI P. E.
Publication year - 1970
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1970.tb00218.x
Subject(s) - isochromosome , dicentric chromosome , gonad , biology , genetics , anatomy , karyotype , chromosome , gene
SUMMARY Three females, two with gonadal dysgenesis, are discussed who were chromatin negative and chromosomally showed mosaicism with two cell lines. One line was 45, X and the other had 46 chromosomes one of which was clearly dicentric in most cells and interpreted as a relatively stable dicentric Y isochromosome. In the first two subjects the isochromosome was of the long arms of the Y , and quantitative autoradiography in the first case supported this contention. The third dicentric isochromosome was thought to be of the short arms of the Y Laparotomy and gonadectomy were done in the first two patients. Serial sections of the gonads showed a single sterile testicular tubule in the right gonad of the first patient, while the left gonad of this patient and the only gonad of the other were sterile ‘streaks’.