Portal de Periódicos da CAPES

Klinefelter's Syndrome in a Ten-Month-Old Mongolian Idiot

1960; Massachusetts Medical Society; Volume: 263; Issue: 18 Linguagem: Inglês

10.1056/nejm196011032631804

1533-4406

Jonathan T. Lanman, Burton S. Sklarin, Herbert L. Cooper, Kurt Hirschhorn,

Sexual Differentiation and Disorders

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 . . .