Abstract
A patient with features of Turner's syndrome is reported. In her karyotype there were 46 chromosomes including 15 chromosomes in the C group and one metacentric marker the size of a No. 16. This marker was identified through its fluorescence pattern as being an isochromosome for the long arm of the Y. This observation strongly suggests that the male determining factors are situated on the short arm of the Y chromosome.
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- Armendares S., Buentello L., Salamanca F., Cantu-Garza J. M. A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome. J Med Genet. 1972 Mar;9(1):96–100. doi: 10.1136/jmg.9.1.96. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Caspersson T., Lomakka G., Zech L. The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability. Hereditas. 1972;67(1):89–102. doi: 10.1111/j.1601-5223.1971.tb02363.x. [DOI] [PubMed] [Google Scholar]
- Ferguson-Smith M. A., Boyd E., Ferguson-Smith M. E., Pritchard J. G., Yusuf A. F., Gray B. Isochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi). J Med Genet. 1969 Dec;6(4):422–425. doi: 10.1136/jmg.6.4.422. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jacobs P. A., Ross A. Structural abnormalities of the Y chromosome in man. Nature. 1966 Apr 23;210(5034):352–354. doi: 10.1038/210352a0. [DOI] [PubMed] [Google Scholar]
- Robinson J. A., Buckton K. E. Quinacrine fluorescence of variant and abnormal human Y chromosomes. Chromosoma. 1971;35(3):342–352. doi: 10.1007/BF00326283. [DOI] [PubMed] [Google Scholar]




