Klinefelter's Syndrome in a Ten-Month-Old Mongolian Idiot
- 3 November 1960
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 263 (18) , 887-890
- https://doi.org/10.1056/nejm196011032631804
Abstract
IN 1956 Tjio and Levan1 and Ford and Hamerton2 conclusively established the normal human chromosome number to be 46. This number includes 22 pairs of autosomes and 2 sex chromosomes, paired in the female (XX) and unpaired in the male (XY). In 1959 abnormal numbers of chromosomes were described in several clinical entities. In mongolism 47 chromosomes were found,3 with 3 of 1 of the small autosomes in place of the usual pair. Klinefelter's syndrome (testicular dysgenesis) is also associated with 47 chromosomes,4 owing to the presence of 3 sex chromosomes (XXY). Patients with Turner's syndrome (ovarian agenesis) have only . . .Keywords
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