Turner's Syndrome
- 5 December 1996
- journal article
- review article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 335 (23) , 1749-1754
- https://doi.org/10.1056/nejm199612053352307
Abstract
Currently, there are 50,000 to 75,000 girls and women with Turner's syndrome in the United States alone. Turner's syndrome, first described in 1938,1 is the most common sex-chromosome abnormality in females, affecting an estimated 3 percent of all females conceived. However, the frequency among live-born female infants is only 1 in 1500 to 1 in 2500, and as many as 15 percent of spontaneous miscarriages have a 45,X karyotype. It is estimated that only 1 in 100 embryos with a 45,X karyotype survive to term.2 Molecular studies have shown that the maternal X is retained in two thirds of patients . . .Keywords
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