title: Concomitant Turner syndrome and hemophilia A in a female with an idic(X)(p11) heterozygous at locus DXS52.
abstract: 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.
authors.affiliation: Laboratorio di Ematologia Pediatrica, Istituto G. Gaslini, Genova, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Panarello
authors.forename: M
authors.initials: M
authors.lastname: Acquila
authors.forename: D
authors.initials: D
authors.lastname: Caprino
authors.forename: G
authors.initials: G
authors.lastname: Gimelli
authors.forename: M
authors.initials: M
authors.lastname: Pecorara
authors.forename: P G
authors.initials: PG
authors.lastname: Mori
mesh_terms: D000293:Adolescent; D015139:Blotting, Southern; D002869:Chromosome Aberrations; D005260:Female; D006467:Hemophilia A / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*; D014960:X Chromosome