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Cytogenet Cell Genet. 1992;59(4):241-2.

Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52.

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  • 1Laboratorio di Ematologia Pediatrica, Istituto G. Gaslini, Genova, Italy.


A 46,X,idic(X)(p11) karyotype was found in a female affected by Turner syndrome and sporadic moderate hemophilia A. Restriction fragment length polymorphism analysis of the patients's DNA demonstrated that the idic(X) contained alleles from both maternal X chromosomes. Since the idic(X) appeared to be always inactivated, a de novo mutation of factor VIII in the normal paternal X chromosome is probably responsible for the patient's coagulation disorder.

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