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

C. Panarello, M. Acquila, D. Caprino, G. Gimelli, M. Pecorara, P. G. Moril

Research output: Contribution to journalArticle

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 patient’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.

Original languageEnglish
Pages (from-to)241-242
Number of pages2
JournalCytogenetic and Genome Research
Volume59
Issue number4
DOIs
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Genetics(clinical)
  • Cell Biology

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