Abstract

AIASSA, Delia; BOSCH, Beatriz  and  CASTELLANO, Mónica. Turner's syndrome 45,X/46Xdel(X)(q21): A case report. Arch. argent. pediatr. [online]. 2013, vol.111, n.1, pp.e21-e23. ISSN 0325-0075.

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].

Keywords : Turner syndrome mosaicism; Primary amenorrhea.

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