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Arch Argent Pediatr. 2013 Jan-Feb;111(1):e21-3. doi: 10.1590/S0325-00752013000100017.

[Turner's syndrome 45,X/46Xdel(X)(q21): a case report].

[Article in Spanish]

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  • 1Laboratorio de Genética, Centro Médico Científico, Departamento de Ciencias Naturales, Universidad Nacional de Río Cuarto, Río Cuarto, Córdoba.


Turner's syndrome was described by Otto Ullrich (1930) and Henry Turner (1938). An estimated 1 from 2,000 to 3,000 female babies and 1% of the conceptions of female embryos and fetuses have this condition, and 95 to 99% of them result in miscarriage during the first trimester. The case presented concerns a 15 y/o girl who consulted due to primary amenorrhea. The karyotype was 45,X[6]/46Xdel(X)(q21)[14]. Her mother had experienced premature ovarian failure and her karyotype was: 46Xdel(X)(q21)[3]/46,XX[35].

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