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  • 标题:Chromosome Structure and Function in Man, III. Pachytene Analysis and Identification of the Supernumerary Chromosome in a Case of Down's Syndrome (Mongolism)
  • 本地全文:下载
  • 作者:David A. Hungerford ; William J. Mellman ; Gloria B. Balaban
  • 期刊名称:Proceedings of the National Academy of Sciences
  • 印刷版ISSN:0027-8424
  • 电子版ISSN:1091-6490
  • 出版年度:1970
  • 卷号:67
  • 期号:1
  • 页码:221-224
  • DOI:10.1073/pnas.67.1.221
  • 语种:English
  • 出版社:The National Academy of Sciences of the United States of America
  • 摘要:Recently developed pachytene maps of the two small acrocentric autosomes (numbers 21 and 22) of man have been applied to a case of Down's syndrome mosaic for normal and trisomic cells (46,XY/47,XY,21+). Trivalents in trisomic spermatocytes, and thus the supernumerary chromosome, were recognized as compatible in length and chromomere pattern with the shorter of these two chromosomes at the pachytene stage. With the exception of the region of the centromere and the short arm, association among constituents of the trivalent appeared complete.
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