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)
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.